ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) (rs376133710)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228575 SCV001400978 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1041*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs376133710, ExAC 0.01%). This variant has been observed in an individual affected with short-rib polydactyly syndrome (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446685). Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). For these reasons, this variant has been classified as Pathogenic.
Dan Cohn Lab,University Of California Los Angeles RCV000516007 SCV000612118 likely pathogenic Type IV short rib polydactyly syndrome 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516007 SCV001479554 likely pathogenic Type IV short rib polydactyly syndrome no assertion criteria provided research

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