ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) (rs121908425)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255270 SCV000322261 pathogenic not provided 2016-02-05 criteria provided, single submitter clinical testing The R340X pathogenic variant in the EVC gene has been reported previously in Ellis-van Creveldsyndrome, in an affected individual who was compound heterozygous for the R340X variant andanother protein truncating variant (Ruiz-Perez et al., 2000). This variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay. TheR340X variant was not observed in approximately 6500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret R340X as a pathogenic variant.
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000005668 SCV000788394 pathogenic Ellis-van Creveld syndrome 2018-05-01 criteria provided, single submitter research
Invitae RCV000807465 SCV000947518 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg340*) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121908425, ExAC 0.01%). This variant has been observed in several individuals affected with EVC-related conditions (PMID: 10700184, 29068549, 17024374). ClinVar contains an entry for this variant (Variation ID: 5340). Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005668 SCV000025850 pathogenic Ellis-van Creveld syndrome 2000-03-01 no assertion criteria provided literature only
Dan Cohn Lab,University Of California Los Angeles RCV000516113 SCV000612079 pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research
Counsyl RCV000005668 SCV000795981 pathogenic Ellis-van Creveld syndrome 2017-11-26 no assertion criteria provided clinical testing

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