ClinVar Miner

Submissions for variant NC_000004.11:g.(?_5458281)_(5586509_?)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 RCV004580739 SCV005064763 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-05-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EVC2 protein in which other variant(s) (p.Ser1220Argfs*3) have been determined to be pathogenic (PMID: 12571802, 19810119). 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 exons 18-22 and part of exon 17 (c.2898_*106294del) of the EVC2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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