ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.645G>A (p.Trp215Ter)

dbSNP: rs779857359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505905 SCV000603509 pathogenic not specified 2017-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857266 SCV002239433 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp215*) 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 (rs779857359, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 22406498). ClinVar contains an entry for this variant (Variation ID: 439673). For these reasons, this variant has been classified as Pathogenic.

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