ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs886044763
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Total submissions: 2
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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
Invitae RCV001378637 SCV001576252 pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 10958763, 28118664, 29925512, 32619608). ClinVar contains an entry for this variant (Variation ID: 236149). 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. For these reasons, this variant has been classified as Pathogenic.

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