ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3057+1del

dbSNP: rs772639262
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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 RCV001944964 SCV002131334 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-02-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with EVC2-related conditions. This variant is also known as c.3057+1del. This variant is present in population databases (rs772639262, ExAC 0.008%). This sequence change creates a premature translational stop signal (p.Glu1020Serfs*39) 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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