ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)

dbSNP: rs1553857828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667482 SCV000791937 likely pathogenic Ellis-van Creveld syndrome 2017-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767956 SCV004573494 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-03-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552255). This variant has not been reported in the literature in individuals affected with EVC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Cys8*) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543).

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