ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) (rs61748559)

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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 RCV000008357 SCV000281827 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085416 SCV000343783 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085416 SCV000780286 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV000085416 SCV001198189 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 572 of the ABCA4 protein (p.Arg572Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs61748559, ExAC 0.01%). This variant has been observed in individuals affected with retinal disease, always in combination (often proven in cis) with the Pathogenic (low penetrance) variant p.Gly863Ala (PMID: 9973280, 29555955, 10958763, 20647261, 28118664, 29925512). Thus, the clinical significance of p.Arg572Gln in isolation is unknown. ClinVar contains an entry for this variant (Variation ID: 7900). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV001074326 SCV001239900 uncertain significance Retinal dystrophy 2019-07-09 criteria provided, single submitter clinical testing
OMIM RCV000008357 SCV000028565 pathogenic Stargardt disease 1 2000-02-01 no assertion criteria provided literature only
Retina International RCV000085416 SCV000117553 not provided not provided no assertion provided not provided

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