Submissions for variant NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)

dbSNP: rs1558280170

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001049577	SCV001213634	pathogenic	Parathyroid carcinoma	2023-07-16	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with hyperparathyroidism-jaw tumor syndrome (HPT-JT) or clinial features of HPT-JT (PMID: 22187299, 23293331, 25959515). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 846304). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg91*) 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).
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198546	SCV001369524	pathogenic	Hyperparathyroidism 1	2019-09-12	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	RCV001310104	SCV001499637	pathogenic	Familial cancer of breast	2020-04-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005012486	SCV005636032	pathogenic	Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors	2024-03-12	criteria provided, single submitter	clinical testing