ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1176GAA[1] (p.Lys394del)

dbSNP: rs1677687636
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318432 SCV001509131 uncertain significance Parathyroid carcinoma 2024-09-06 criteria provided, single submitter clinical testing This variant, c.1179_1181del, results in the deletion of 1 amino acid(s) of the CDC73 protein (p.Lys394del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. ClinVar contains an entry for this variant (Variation ID: 1019048). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002341652 SCV002636556 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-21 criteria provided, single submitter clinical testing The c.1179_1181delGAA variant (also known as p.K394del) is located in coding exon 14 of the CDC73 gene. This variant results from an in-frame GAA deletion at nucleotide positions 1179 to 1181. This results in the in-frame deletion of a lysine at codon 394. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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