ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.728A>T (p.Lys243Met)

dbSNP: rs1675915771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066852 SCV001231875 uncertain significance Parathyroid carcinoma 2023-05-15 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 860535). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 243 of the CDC73 protein (p.Lys243Met).
Fulgent Genetics, Fulgent Genetics RCV002482108 SCV002788320 uncertain significance Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2021-09-27 criteria provided, single submitter clinical testing

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