ClinVar Miner

Submissions for variant NM_000459.5(TEK):c.2690A>C (p.Tyr897Ser)

dbSNP: rs80338909
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Total submissions: 3
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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 RCV002254262 SCV002525616 likely pathogenic Blue rubber bleb nevus 2021-05-11 criteria provided, single submitter clinical testing This variant has been previously reported in individuals with venous malformations and blue rubber bleb nevus syndrome (PMID: 33105631, PMID: 19079259, PMID: 27519652). This variant has been previously reported in a family with heritable cutaneomucosal venous malformation (PMID: 10369874, NBK1967). This variant is absent from large population studies (gnomAD v2.1.1), and computational algorithms predict a deleterious effect on protein function.
OMIM RCV000009877 SCV000030098 pathogenic Multiple cutaneous and mucosal venous malformations 1999-07-01 no assertion criteria provided literature only
GeneReviews RCV000009877 SCV000040679 not provided Multiple cutaneous and mucosal venous malformations no assertion provided literature only

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