ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) (rs61751384)

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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 RCV000408531 SCV000281959 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085823 SCV000706612 pathogenic not provided 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000085823 SCV001227419 pathogenic not provided 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 2150 of the ABCA4 protein (p.Cys2150Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs61751384, ExAC 0.004%). This variant has been observed in individuals affected with bullseye maculopathy (PMID: 25283059) as well as Stargardt disease (PMID: 15579991, 24743636, 23755871, 28559085). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99463). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Cys2150 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been observed in individuals with ABCA4-related conditions (PMID:11527935), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074378 SCV001239956 pathogenic Retinal dystrophy 2019-07-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085823 SCV001247595 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Retina International RCV000085823 SCV000117966 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000408531 SCV000599018 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research

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