ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.244G>A (p.Gly82Arg)

dbSNP: rs767017718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001351624 SCV001546114 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2020-02-20 criteria provided, single submitter clinical testing 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"). 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. 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 glycine with arginine at codon 82 of the RASA1 protein (p.Gly82Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

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