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 variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 553207). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 26748586). 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).

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