ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003026355 SCV003323274 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-03-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln965*) 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). This variant is present in population databases (rs779407729, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2106204). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003026355 SCV005658238 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-21 criteria provided, single submitter clinical testing

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