ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)

gnomAD frequency: 0.00002  dbSNP: rs760382778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670205 SCV000795035 likely pathogenic Ellis-van Creveld syndrome 2017-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000702796 SCV000831666 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg874*) 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 (rs760382778, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Ellis van Creveld (EvC) syndrome (PMID: 19251731). ClinVar contains an entry for this variant (Variation ID: 554547). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001560317 SCV001782703 likely pathogenic not provided 2021-03-08 criteria provided, single submitter clinical testing Has been reported previously in an individual with Ellis-van Creveld syndrome who also harbored a missense variant (Sund et al., 2009); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 25525159, 19251731)

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