Submissions for variant NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)

gnomAD frequency: 0.00066  dbSNP: rs75267647

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000297212	SCV000359399	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356767	SCV000359400	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000261992	SCV000359401	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000331144	SCV000359402	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000894101	SCV001038066	benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001073731	SCV001239290	uncertain significance	Retinal dystrophy	2017-09-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096426	SCV001252634	likely benign	ABCA4-related disorder	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Dept Of Ophthalmology, Nagoya University	RCV001073731	SCV004704647	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV001096426	SCV004772464	benign	ABCA4-related disorder	2019-08-09	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).