ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.818C>T (p.Ala273Val)

dbSNP: rs2103130620
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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 RCV002001607 SCV002269591 uncertain significance Parathyroid carcinoma 2022-08-09 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. 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. ClinVar contains an entry for this variant (Variation ID: 1489857). 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 alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 273 of the CDC73 protein (p.Ala273Val).
Baylor Genetics RCV004571916 SCV005060035 uncertain significance Hyperparathyroidism 1 2024-02-11 criteria provided, single submitter clinical testing

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