ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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 2022-02-09 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 25525159, 26748586, 19810119)
Labcorp Genetics (formerly Invitae), Labcorp RCV001040343 SCV001203910 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-10-17 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. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with Ellis-van Creveld syndrome (PMID: 19810119, 26748586). ClinVar contains an entry for this variant (Variation ID: 280117). 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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