ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)

dbSNP: rs1553873969
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671655 SCV000796650 pathogenic Ellis-van Creveld syndrome 2017-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000807466 SCV000947519 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant has been observed in two individuals affected with Ellis-van Creveld syndrome (PMID: 23220543). ClinVar contains an entry for this variant (Variation ID: 555774). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu354Serfs*31) in the EVC gene. It is expected to result in an absent or disrupted protein product.
Natera, Inc. RCV000671655 SCV001454802 pathogenic Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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