ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)

dbSNP: rs779915989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667721 SCV000792216 likely pathogenic Ellis-van Creveld syndrome 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855487 SCV002236427 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu354*) 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 (rs779915989, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 19810119). ClinVar contains an entry for this variant (Variation ID: 552459). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001855487 SCV002803600 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-09-18 criteria provided, single submitter clinical testing

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