ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs)

dbSNP: rs1715829134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220420 SCV001392408 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln690Argfs*11) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 949041). This variant is not present in population databases (ExAC no frequency).

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