ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.64G>T (p.Gly22Ter)

dbSNP: rs1675465013
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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 RCV001241910 SCV001414964 pathogenic Parathyroid carcinoma 2020-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CDC73-related conditions. ClinVar contains an entry for this variant (Variation ID: 967087). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly22*) 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).

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