ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) (rs548681312)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000393643 SCV000329975 pathogenic not provided 2016-03-10 criteria provided, single submitter clinical testing The R826X pathogenic variant in the EVC2 gene has been reported previously in the homozygous state in an individual with Ellis-van-Creveld syndrome (Valencia et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R826X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R826X as a pathogenic variant.
Invitae RCV001040343 SCV001203910 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg826*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs548681312, ExAC 0.01%). This variant has been observed in individuals affected with Ellis-van Creveld syndrome (PMID: 19810119, 26748586). ClinVar contains an entry for this variant (Variation ID: 280117). Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000672927 SCV000798083 pathogenic Ellis-van Creveld syndrome 2018-02-21 no assertion criteria provided clinical testing

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