Submissions for variant NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)

dbSNP: rs62654395

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV000132588	SCV000281802	likely pathogenic	Severe early-childhood-onset retinal dystrophy	2016-01-01	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001074366	SCV001239942	pathogenic	Retinal dystrophy	2019-07-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000085451	SCV001247765	pathogenic	not provided	2020-02-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000085451	SCV002247006	pathogenic	not provided	2025-01-23	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 65 of the ABCA4 protein (p.Gly65Glu). This variant is present in population databases (rs62654395, gnomAD 0.0009%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 10206579, 28559085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99107). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002490741	SCV002799461	pathogenic	Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19	2024-05-06	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001074366	SCV005068999	likely pathogenic	Retinal dystrophy	2022-01-01	criteria provided, single submitter	clinical testing
Retina International	RCV000085451	SCV000117588	not provided	not provided		no assertion provided	not provided
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132588	SCV000172532	pathogenic	Severe early-childhood-onset retinal dystrophy		no assertion criteria provided	not provided	Converted during submission to Pathogenic.