ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2056dup (p.Gln686fs)

gnomAD frequency: 0.00001  dbSNP: rs1265421045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070497 SCV001235744 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-08-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln686Profs*3) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Ellis-van Creveld syndrome (PMID: 12571802). Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929).
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000003549 SCV002507169 pathogenic Ellis-van Creveld syndrome 2022-05-09 criteria provided, single submitter clinical testing
OMIM RCV000003549 SCV000023707 pathogenic Ellis-van Creveld syndrome 2003-03-01 no assertion criteria provided literature only

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