ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2T>C (p.Met1Thr)

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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 RCV002954055 SCV003279788 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-31 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the EVC mRNA. The next in-frame methionine is located at codon 92. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Disruption of the initiator codon has been observed in individuals with Ellis-van Creveld syndrome (PMID: 19810119, 28854412). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).

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