ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter)

dbSNP: rs1759093156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058236 SCV001222793 pathogenic Capillary malformation-arteriovenous malformation syndrome 2020-03-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RASA1 are known to be pathogenic (PMID: 24038909). This variant has not been reported in the literature in individuals with RASA1-related conditions. This sequence change creates a premature translational stop signal (p.Gln408*) in the RASA1 gene. It is expected to result in an absent or disrupted protein product.

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