ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) (rs137852924)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000763528 SCV000626058 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 399 (p.Arg399*) of 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. This particular variant has been reported in the literature as homozygous or compound heterozygous in individuals with Ellis-van Creveld syndrome (PMID: 12571802, 21199751, 23026208). ClinVar contains an entry for this variant (Variation ID: 3383). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000578498 SCV000680767 pathogenic not provided 2018-01-08 criteria provided, single submitter clinical testing The R399X nonsense variant in the EVC2 gene has been reported previously in association with Ellis-van Creveld syndrome (Ruiz-Perez et al., 2003; Chen et al., 2012; Tompson et al., 2007). The R399X variant is observed in 4/30780 (0.013%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We classify R399X as a pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000578498 SCV000859321 pathogenic not provided 2018-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763528 SCV000894340 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000003550 SCV000023708 pathogenic Ellis-van Creveld syndrome 2003-03-01 no assertion criteria provided literature only
Dan Cohn Lab,University Of California Los Angeles RCV000516144 SCV000612085 pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research
Dan Cohn Lab,University Of California Los Angeles RCV000003550 SCV000612086 pathogenic Ellis-van Creveld syndrome 2017-06-01 no assertion criteria provided research
Counsyl RCV000003550 SCV000791341 pathogenic Ellis-van Creveld syndrome 2017-05-08 no assertion criteria provided clinical testing

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