ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) (rs863223718)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763548 SCV000894365 pathogenic Basal cell carcinoma, multiple; Capillary malformation-arteriovenous malformation 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000196439 SCV000250641 pathogenic not provided 2018-08-10 criteria provided, single submitter clinical testing The R711X variant in the RASA1 gene has been reported previously in several unrelated individuals with CM-AVM (Revencu et al., 2013). The R711X variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the RASA1 gene have been reported in Human Gene Mutation Database in association with CM-AVM (Stenson et al., 2014). Furthermore, the R711X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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