ClinVar Miner

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

dbSNP: 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001378366 SCV001575918 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-03 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 558005). 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). This sequence change affects the initiator methionine of the EVC mRNA. The next in-frame methionine is located at codon 92.

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