ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly)

gnomAD frequency: 0.00001  dbSNP: rs61751420
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085367 SCV000589297 pathogenic not provided 2023-07-03 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Scortecci et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25066811, 28559085, 11379881, 29925512, 34945039, 36931393, 34954332, 34874912, 34625547)
Blueprint Genetics RCV001073495 SCV001239038 pathogenic Retinal dystrophy 2019-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085367 SCV001382168 pathogenic not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 339 of the ABCA4 protein (p.Trp339Gly). This variant is present in population databases (rs61751420, gnomAD 0.002%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 11379881, 28559085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 99025). 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.
Retina International RCV000085367 SCV000117504 not provided not provided no assertion provided not provided
Eurofins Ntd Llc (ga) RCV000085367 SCV000706614 uncertain significance not provided 2017-03-29 flagged submission clinical testing

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