ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) (rs281865402)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000085646 SCV000202090 uncertain significance not provided 2013-12-17 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000505160 SCV001241136 likely pathogenic Retinal dystrophy 2018-11-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085646 SCV001248241 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV000085646 SCV001388934 pathogenic not provided 2020-09-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1513 of the ABCA4 protein (p.Gln1513Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with retinal disease (PMID: 29925512, 28559085, Invitae). 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: 99293). 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. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 29162642). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376334 SCV001573444 likely pathogenic Stargardt disease 1 2021-04-08 criteria provided, single submitter research The ABCA4 c.4538A>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PM3, PS3. Based on this evidence we have classified this variant as Likely Pathogenic.
Retina International RCV000085646 SCV000117785 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505160 SCV000598980 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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