Submissions for variant NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)

gnomAD frequency: 0.00002  dbSNP: rs886044763

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV000408559	SCV000281962	pathogenic	Severe early-childhood-onset retinal dystrophy	2016-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001378637	SCV001576252	pathogenic	not provided	2023-08-29	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function. ClinVar contains an entry for this variant (Variation ID: 236149). This missense change has been observed in individual(s) with Stargardt disease (PMID: 10958763, 28118664, 29925512, 32619608). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2216 of the ABCA4 protein (p.Ala2216Val).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004816435	SCV005068496	pathogenic	Retinal dystrophy	2021-01-01	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	RCV004783767	SCV005397856	uncertain significance	Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19	2022-03-07	criteria provided, single submitter	clinical testing