ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.873dup (p.Glu292Ter)

gnomAD frequency: 0.00001  dbSNP: rs527255616
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666798 SCV000791154 pathogenic Ellis-van Creveld syndrome 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000695327 SCV000823819 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu292*) 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 (rs527255616, gnomAD 0.004%). This premature translational stop signal has been observed in individuals with Ellis-van Creveld syndrome (PMID: 17024374, 19810119). ClinVar contains an entry for this variant (Variation ID: 551674). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000695327 SCV002778061 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-02-17 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000666798 SCV003806825 pathogenic Ellis-van Creveld syndrome 2023-02-03 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 supporting, PM3 strong
Natera, Inc. RCV000666798 SCV001454794 pathogenic Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724122 SCV001956371 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724122 SCV001974370 pathogenic not provided no assertion criteria provided clinical testing

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