ClinVar Miner

Submissions for variant NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs)

dbSNP: rs1554048061
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232408 SCV001404966 pathogenic Capillary malformation-arteriovenous malformation syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile505Lysfs*16) in the RASA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RASA1 are known to be pathogenic (PMID: 24038909). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with capillary malformation-arteriovenous malformation (PMID: 29891884). For these reasons, this variant has been classified as Pathogenic.

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