ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.390dup (p.Ile131fs)

dbSNP: rs1253403779
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963011 SCV002228817 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile131Tyrfs*6) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1455363). For these reasons, this variant has been classified as Pathogenic.

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