ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)

dbSNP: rs61751419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085879 SCV003523338 pathogenic not provided 2024-02-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 328 of the ABCA4 protein (p.Glu328Val). This variant is present in population databases (rs61751419, gnomAD 0.006%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 10958763, 26780318, 33301772). ClinVar contains an entry for this variant (Variation ID: 99518). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796011 SCV005416306 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PM3_Strong+PP4
Retina International RCV000085879 SCV000118022 not provided not provided no assertion provided not provided

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