ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) (rs61748552)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085388 SCV001229072 uncertain significance not provided 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 445 of the ABCA4 protein (p.Ser445Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Stargardt disease or other inherited retinal diseases (PMID: 28041643, 10634594, 26872967, 11328725). ClinVar contains an entry for this variant (Variation ID: 99045). 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 RCV000210294 SCV001239905 likely pathogenic Retinal dystrophy 2019-07-10 criteria provided, single submitter clinical testing
Retina International RCV000085388 SCV000117525 not provided not provided no assertion provided not provided
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000210294 SCV000259079 likely pathogenic Retinal dystrophy 2015-01-21 no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504649 SCV000598932 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research

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