ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)

dbSNP: rs73198165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665358 SCV000789468 pathogenic Ellis-van Creveld syndrome 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382204 SCV001580863 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg677*) 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 (rs73198165, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Ellis-van Creveld syndrome (PMID: 19810119, 22406498). ClinVar contains an entry for this variant (Variation ID: 550579). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784231 SCV002022226 pathogenic not provided 2019-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001784231 SCV005325063 pathogenic not provided 2024-02-25 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, 22406498, 19876929, 31589614, 19810119)

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