ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.2dup (p.Met1fs)

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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 RCV003607937 SCV004488427 pathogenic Parathyroid carcinoma 2022-12-05 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CDC73 mRNA. The next in-frame methionine is located at codon 177. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. This variant disrupts a region of the CDC73 protein in which other variant(s) (p.Leu63Pro) have been determined to be pathogenic (PMID: 18755853; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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