ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)

dbSNP: rs748523193
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665849 SCV000790035 likely pathogenic Ellis-van Creveld syndrome 2017-03-02 criteria provided, single submitter clinical testing
Invitae RCV001045278 SCV001209118 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr121*) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Ellis–van Creveld syndrome or short-rib polydactyly syndrome type II (PMID: 19810119, 29068549). ClinVar contains an entry for this variant (Variation ID: 446662). For these reasons, this variant has been classified as Pathogenic.
Dan Cohn Lab, University Of California Los Angeles RCV000516149 SCV000612082 pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516149 SCV001479597 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly no assertion criteria provided research
Natera, Inc. RCV000665849 SCV002083013 pathogenic Ellis-van Creveld syndrome 2020-11-09 no assertion criteria provided clinical testing

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