ClinVar Miner

Submissions for variant NC_000001.11:g.(?_193135381)_(193138183_?)del

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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 RCV001033884 SCV001197191 pathogenic Parathyroid carcinoma 2022-09-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individuals with hyperparathyroidism-jaw tumor syndrome (HPT-JT) or clinial features of HPT-JT (PMID: 23293331, 24716902). This variant is a gross deletion of the genomic region encompassing exon(s) 4-6 of the CDC73 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CDC73 are known to be pathogenic (PMID: 12434154).

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