ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter)

dbSNP: rs1210180190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235551 SCV000948779 pathogenic Capillary malformation-arteriovenous malformation syndrome 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg398*) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with capillary malformation-arteriovenous malformation (PMID: 18446851, 24038909). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 652988). For these reasons, this variant has been classified as Pathogenic.
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254318 SCV002525588 pathogenic not provided 2020-03-13 criteria provided, single submitter clinical testing The p.Arg398* variant replaces the arginine at position 398 with a termination codon and is expected to cause a loss of protein function. This variant is absent from large population cohorts (0 of 250,278 alleles; Genome Aggregation Database v2.1). This variant has previously been reported in several affected individuals with capillary malformations (PMID: 18446851, PMID: 24038909, PMID: 31300548). Often the p.Arg398* variant was inherited (PMID: 18446851, PMID: 24038909).

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