ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2T>A (p.Met1Lys) (rs1553857801)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674216 SCV000799516 pathogenic Ellis-van Creveld syndrome 2018-04-24 criteria provided, single submitter clinical testing
Invitae RCV001378366 SCV001575918 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-06-16 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 19810119, 28854412). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 558005). 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.

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