ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1694del (p.Ala565fs)

gnomAD frequency: 0.00012  dbSNP: rs753014919
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666228 SCV000790485 pathogenic Ellis-van Creveld syndrome 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV000804230 SCV000944127 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala565Valfs*23) 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). This variant is present in population databases (rs753014919, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with Ellis-van Creveld syndrome (PMID: 17024374, 23220543). ClinVar contains an entry for this variant (Variation ID: 551227). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV003140060 SCV003821460 pathogenic not provided 2022-06-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000666228 SCV001456830 pathogenic Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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