ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) (rs121908424)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045109 SCV001208943 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln879*) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121908424, ExAC 0.01%). This variant has been observed in an individual affected with Ellis-van Creveld syndrome (PMID: 10700184). ClinVar contains an entry for this variant (Variation ID: 5339). Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005667 SCV000025849 pathogenic Ellis-van Creveld syndrome 2000-03-01 no assertion criteria provided literature only

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