ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)

gnomAD frequency: 0.00001  dbSNP: rs774949132
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041122 SCV001204719 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln672*) 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 (rs774949132, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 31338997). ClinVar contains an entry for this variant (Variation ID: 839382). For these reasons, this variant has been classified as Pathogenic.

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