ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)

dbSNP: rs1553850677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668603 SCV000793232 likely pathogenic Ellis-van Creveld syndrome 2017-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001214748 SCV001386449 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu257*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 26748586). ClinVar contains an entry for this variant (Variation ID: 553207). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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