ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1469A>G (p.Gln490Arg)

dbSNP: rs2102073385
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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 RCV001915521 SCV002174810 uncertain significance Parathyroid carcinoma 2021-06-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CDC73-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 490 of the CDC73 protein (p.Gln490Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine.
Ambry Genetics RCV004946851 SCV005553849 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-27 criteria provided, single submitter clinical testing The c.1469A>G (p.Q490R) alteration is located in exon 16 (coding exon 16) of the CDC73 gene. This alteration results from a A to G substitution at nucleotide position 1469, causing the glutamine (Q) at amino acid position 490 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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