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
Labcorp Genetics (formerly Invitae), Labcorp RCV000532556 SCV000636172 likely pathogenic Parathyroid carcinoma 2017-08-09 criteria provided, single submitter clinical testing While experimental studies are not available specifically for this deletion, this in-frame deletion (p.Thr80_Glu141del) is expected to completely remove a bipartite nuclear localization signal (NLS) of the CDC73 protein (residues 125-139) (PMID: 17314275). This suggests that the genomic sequence encompassed by this deletion is important for proper localization and function of the CDC73 protein. However, the clinical relevance of this observation is not clear from this study. Deletions of exons 3-5 have not been reported in the literature in individuals with a CDC73-related disease. This variant is an in-frame deletion of the genomic region encompassing exons 3-5 of the CDC73 gene. It preserves the integrity of the reading frame. In summary, this is an in-frame deletion that disrupts an important protein functional domain. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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