ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) (rs748523193)

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Total submissions: 3
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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 2019-09-27 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another EVC variant in individuals affected 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). Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.
Dan Cohn Lab,University Of California Los Angeles RCV000516149 SCV000612082 pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research

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