ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.237+1G>C

dbSNP: rs794727303
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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 RCV000465715 SCV000541284 pathogenic Parathyroid carcinoma 2024-07-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the CDC73 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 CDC73 are known to be pathogenic (PMID: 12434154). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with primary hyperparathyroidism (PMID: 14985403, 23293331). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 403882). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 19332451). For these reasons, this variant has been classified as Pathogenic.

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