ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val)

gnomAD frequency: 0.00004  dbSNP: rs913030626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075397 SCV001241019 uncertain significance Retinal dystrophy 2018-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001206811 SCV001378140 pathogenic not provided 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 403 of the ABCA4 protein (p.Asp403Val). This variant is present in population databases (no rsID available, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of Stargardt disease and/or Stargardt disease (PMID: 25066811; Invitae). ClinVar contains an entry for this variant (Variation ID: 866970). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCA4 protein function. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001206811 SCV002097557 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25066811)

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