ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.729+1G>T

dbSNP: rs1060500012
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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 RCV000473101 SCV000541285 likely pathogenic Parathyroid carcinoma 2016-10-31 criteria provided, single submitter clinical testing In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in CDC73 are known to be pathogenic (PMID: 12434154). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CDC73-related disease. This sequence change affects a donor splice site in intron 7 of the CDC73 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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