ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003338970 SCV004058328 pathogenic Hereditary cancer-predisposing syndrome 2023-06-27 criteria provided, single submitter clinical testing The p.R229* pathogenic mutation (also known as c.685A>T), located in coding exon 7 of the CDC73 gene, results from an A to T substitution at nucleotide position 685. This changes the amino acid from an arginine to a stop codon within coding exon 7. This alteration has been reported in an individual with primary hyperparathyroidism diagnosed under age 40 (Mamedova E et al. Endocr Connect, 2017 Nov;6:557-565). 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 RCV004572940 SCV005060037 pathogenic Hyperparathyroidism 1 2024-02-08 criteria provided, single submitter clinical testing

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