ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1575T>G (p.His525Gln)

gnomAD frequency: 0.00001  dbSNP: rs1378278674
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793892 SCV000933270 uncertain significance Parathyroid carcinoma 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 525 of the CDC73 protein (p.His525Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002493447 SCV002783377 uncertain significance Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2022-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027461 SCV005028734 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-06 criteria provided, single submitter clinical testing The p.H525Q variant (also known as c.1575T>G), located in coding exon 17 of the CDC73 gene, results from a T to G substitution at nucleotide position 1575. The histidine at codon 525 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569522 SCV005060047 uncertain significance Hyperparathyroidism 1 2023-11-17 criteria provided, single submitter clinical testing

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