ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter)

gnomAD frequency: 0.00001  dbSNP: rs771907995
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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 RCV001908472 SCV002165922 pathogenic Parathyroid carcinoma 2024-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg358*) in the CDC73 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDC73 are known to be pathogenic (PMID: 12434154). This variant is present in population databases (rs771907995, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. ClinVar contains an entry for this variant (Variation ID: 1388879). For these reasons, this variant has been classified as Pathogenic.

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