ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)

gnomAD frequency: 0.00001  dbSNP: rs137852925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228211 SCV001400599 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln619*) 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 (rs137852925, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld Syndrome (PMID: 12571802). ClinVar contains an entry for this variant (Variation ID: 3384). For these reasons, this variant has been classified as Pathogenic.
DASA RCV000003551 SCV002061202 pathogenic Ellis-van Creveld syndrome 2022-01-05 criteria provided, single submitter clinical testing The c.1855C>T;p.(Gln619*) variant creates a premature translational stop signal in the EVC2 gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 3384; PMID: 12571802) - PS4. This variant is not present in population databases (rs137852925, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.
OMIM RCV000003551 SCV000023709 pathogenic Ellis-van Creveld syndrome 2003-03-01 no assertion criteria provided literature only

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