ClinVar Miner

Submissions for variant NC_000004.11:g.(?_5612949)_(5633604_?)del

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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 RCV004580738 SCV005064762 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-04-11 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. This variant disrupts a region of the EVC2 protein in which other variant(s) (p.Glu926Lys) have been observed in individuals with EVC2-related conditions (PMID: 27168972). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This variant results in the deletion of part of exon 11 and exons 12-16 (c.1626_2829+4200del) of the EVC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929).

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