ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1539del (p.Glu514fs)

dbSNP: rs759106605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527392 SCV000626061 pathogenic Ellis-van Creveld syndrome 2017-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu514Argfs*33) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EVC-related disease. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001389791 SCV001591269 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu514Argfs*33) 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 not present in population databases (gnomAD no frequency). 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: 455998). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000527392 SCV001132184 likely pathogenic Ellis-van Creveld syndrome 2017-03-08 no assertion criteria provided clinical testing

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