ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp)

gnomAD frequency: 0.00001  dbSNP: rs61750062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085550 SCV003523334 pathogenic not provided 2024-03-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1050 of the ABCA4 protein (p.Gly1050Asp). This variant is present in population databases (rs61750062, gnomAD 0.004%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 11702214). 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: 99199). 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815099 SCV005070500 likely pathogenic Retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025154 SCV005659392 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-06-13 criteria provided, single submitter clinical testing
Retina International RCV000085550 SCV000117687 not provided not provided no assertion provided not provided

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