ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1535G>A (p.Arg512Gln)

dbSNP: rs1760264098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217508 SCV001389351 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2019-03-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RASA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 512 of the RASA1 protein (p.Arg512Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
GeneDx RCV003153947 SCV003842876 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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