ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1657dup (p.Tyr553fs)

dbSNP: rs2112474795
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254433 SCV002525597 pathogenic Capillary infantile hemangioma 2022-01-28 criteria provided, single submitter clinical testing The c.1657dupT (p.Tyr553Leufs*30) variant in exon 12 results in a premature termination codon and is expected to cause loss of protein function. The c.1657dupT variant is absent from large population cohorts (Genome Aggregation Database v2.1). It is also not reported in the medical literature and patient databases, although a nonsense variant at the same amino acid position (p.Tyr553*) has been reported in an individual with a CM-AVM syndrome (PMID: 33502802). Loss-of-function of RASA1 is an established pathogenic mechanism (PMID: 29891884 and others).

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