ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)

gnomAD frequency: 0.00002  dbSNP: rs55732384
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408452 SCV000281800 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763051 SCV000893532 pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000085427 SCV001219642 pathogenic not provided 2024-01-18 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 60 of the ABCA4 protein (p.Ala60Val). This variant is present in population databases (rs55732384, gnomAD 0.007%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 28118664, 28559085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99083). 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.
Blueprint Genetics RCV001073359 SCV001238900 pathogenic Retinal dystrophy 2018-12-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085427 SCV004032963 likely pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing ABCA4: PM1, PM2, PM3, PM5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000408452 SCV004801149 uncertain significance Severe early-childhood-onset retinal dystrophy 2024-03-14 criteria provided, single submitter research
Retina International RCV000085427 SCV000117564 not provided not provided no assertion provided not provided

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