ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) (rs1554044823)

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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 RCV000763547 SCV000894364 pathogenic Basal cell carcinoma, multiple; Capillary malformation-arteriovenous malformation 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000528927 SCV000639549 pathogenic Capillary malformation-arteriovenous malformation 2017-03-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 219 (p.Ser219*) of the RASA1 gene. It is expected to result in an absent or disrupted protein product. While this variant has not been reported in the literature, truncating variants in RASA1 are known to be pathogenic (PMID: 24038909). For these reasons, this variant has been classified as Pathogenic.

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