ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) (rs751772225)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537700 SCV000626062 pathogenic Chondroectodermal dysplasia 2017-03-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 562 (p.Gln562*) of the EVC gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543, 26748586). For these reasons, this variant has been classified as Pathogenic.

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