ClinVar Miner

Submissions for variant NC_000001.11:g.(?_193130168)_(193135595_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532556 SCV000636172 likely pathogenic Parathyroid carcinoma 2021-08-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-5 of the CDC73 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with CDC73-related conditions (Invitae). This variant disrupts the nuclear localization signal (NLS) of CDC73, which is important for proper localization and function of the CDC73 protein (PMID: 17314275). While functional studies have not been performed to directly test the effect of this variant on CDC73 protein function, this suggests that disruption of this region of the protein is causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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