ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2010del (p.Lys670fs)

dbSNP: rs2108843186
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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 RCV001917568 SCV002161250 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-10-07 criteria provided, single submitter clinical testing This variant is also known as c.2006delA. For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with EVC2-related conditions (PMID: 17024374). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys670Asnfs*2) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929).

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