ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)

gnomAD frequency: 0.00001  dbSNP: rs896581899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513812 SCV000610525 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing
Counsyl RCV000674041 SCV000799313 likely pathogenic Ellis-van Creveld syndrome 2018-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001215786 SCV001387548 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln941*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 445803). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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