ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter)

dbSNP: rs369739594
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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 RCV001889169 SCV002148812 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-11-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the EVC2 protein. Other variant(s) that disrupt this region (p.Ser1220Argfs*3) have been determined to be pathogenic (PMID: 12571802, 19810119). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with EVC2-related conditions. This variant is present in population databases (rs369739594, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Gln1219*) in the EVC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acid(s) of the EVC2 protein.

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