ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1373del (p.Gly458fs)

dbSNP: rs760607210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671758 SCV000796777 likely pathogenic Ellis-van Creveld syndrome 2017-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532111 SCV003525490 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-31 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with EVC-related conditions (PMID: 23220543). This variant is present in population databases (rs760607210, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gly458Glufs*42) 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). ClinVar contains an entry for this variant (Variation ID: 555852). For these reasons, this variant has been classified as Pathogenic.

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