ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)

dbSNP: rs2103130589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556951 SCV001778627 pathogenic not provided 2021-04-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001882642 SCV002154066 pathogenic Parathyroid carcinoma 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg268*) 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 not present in population databases (gnomAD no frequency). 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: 1194275). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002421192 SCV002681152 pathogenic Hereditary cancer-predisposing syndrome 2021-08-11 criteria provided, single submitter clinical testing The p.R268* pathogenic mutation (also known as c.802C>T), located in coding exon 8 of the CDC73 gene, results from a C to T substitution at nucleotide position 802. This changes the amino acid from an arginine to a stop codon within coding exon 8. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV003463051 SCV004215589 likely pathogenic Hyperparathyroidism 1 2023-05-26 criteria provided, single submitter clinical testing

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