ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1471-2168_1835del

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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 RCV001214597 SCV001386283 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-06-12 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exon 11 and part of exon 12 (c.1471-2169_1835del) of the EVC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with EVC2-related conditions. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). 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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