Molecular Vision: Akhtar, Mol Vis 2025; 31:555-567. Table 2

Table 2. List of identified variants of ABCA4 gene in 10 consanguineous Pakistani families analyzed in this study.

Sr. No.	Family ID	Accession Number	Zygosity	Variant	Nucleotide Change	Protein Change	db SNP ID	ClinVar ID/Classification/Curated classification (codes met)
1	RD008	(NM_000350.3)	Homo	CHR1:94512603G>T	c.2790C>A	p. (Cys930*)	NA	NA/ Likely Pathogenic (PM2, PVS1) *
2	RD013	(NM_000350.3)	Homo	CHR1:94463488G>A	c.6658C>T	p. (Gln2220*)	rs61753046	99,476/ Pathogenic
3	RD018	(NM_000350.3)	Homo	CHR1:94463488G>A	c.6658C>T	p. (Gln2220*)	rs61753046	99,476/ Pathogenic
4	RD030	(NM_000350.3)	Homo	CHR1:94577082C>T	c.214G>A	p. (Gly72Arg)	rs61751412	99,120/ Pathogenic
5	RD033	(NM_000350.3)	Homo	CHR1:94471056G>A	c.6088C>T	p. (Arg2030*)	rs61751383	7907/ Pathogenic
6	RP053	(NM_000350.3)	Homo	CHR1:94463397GTGCCCCAGGGCCAAC>G	c.6729+5_6729+19del	p.?	rs749526785	283,573/ Pathogenic
7	RP074	(NM_000350.3)	Homo	CHR1:94463488G>A	c.6658C>T	p. (Gln2220*)	rs61753046	99,476/ Pathogenic
8	RP171	(NM_000350.3)	Homo/ Hetero	CHR1:94467478C>G	c.6218G>C	p. (Gly2073Ala)	rs752850266	429,847/ Uncertain significance (PM2_Supporting, PP3, PP1) *
9	RP179	(NM_000350.3)	Homo	CHR1:94463488G>A	c.6658C>T	p. (Gln2220*)	rs61753046	99,476/ Pathogenic
10	RP186	(NM_000350.3)	Hetero	CHR1:94463488G>A	c.6658C>T	p. (Gln2220*)	rs61753046	99,476/ Pathogenic
10	RP186	(NM_000350.3)	Hetero	CHR1:94546029C>T	c.1099+5G>A	p.?	NA	NA/ Likely Pathogenic (PM2, PVS1) *

*Curated variant classification of novel and previously reported variants of uncertain significance is given based on data of present study as per ACMG guidelines. PM2: Pathogenic moderate 2 [Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium] PVS1: Pathogenic very strong [null variant (nonsense, frameshift, canonical ±1 or 2 splice sites, initiation codon, single or multiexon deletion) in a gene here LOF is a known mechanism of disease)] BS1: Benign Strong 1 [Allele frequency is greater than expected for disorder] PP1:[ Cosegregation with disease in multiple affected family members in a gene definitively known to cause disease] PP3: Pathogenic supporting 3 [Multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, evolutionary, splicing impact, etc.)] Sequence variant nomenclature was obtained according to the guidelines of the Human Genome Variation Society (HGVS) by using Mutalyzer. The position of variants is according to GRCh37/hg19 reference genome assembly.