ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1813A>C (p.Lys605Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003320435 SCV004024532 uncertain significance Capillary malformation-arteriovenous malformation 1 2023-05-24 criteria provided, single submitter clinical testing This RASA1 missense variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. Of two bioinformatics tools queried, one predicts that the substitution would be damaging, while the other predicts that it would be tolerated. The lysine residue at this position is evolutionarily conserved across many of the species assessed. We consider the clinical significance of c.1813A>C;p.Lys605Gln in RASA1 to be uncertain at this time.

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