ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.208G>C (p.Glu70Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003068085 SCV003451603 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2021-11-27 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This missense change has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (PMID: 29891884). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 70 of the RASA1 protein (p.Glu70Gln).

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