ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.2500_2501del (p.Lys834fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002300771 SCV002587935 pathogenic not provided 2022-04-15 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24038909)
Labcorp Genetics (formerly Invitae), Labcorp RCV003101707 SCV003525880 pathogenic Capillary malformation-arteriovenous malformation syndrome 2022-02-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys834Valfs*5) 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 premature translational stop signal has been observed in individual(s) with clinical features of RASA1-related conditions (PMID: 24038909). For these reasons, this variant has been classified as Pathogenic.

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