ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.29T>C (p.Met10Thr)

dbSNP: rs730881936
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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 RCV001371879 SCV001568463 uncertain significance Fanconi anemia complementation group O 2023-09-10 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 10 of the RAD51C protein (p.Met10Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 1062191). 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. 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.
Baylor Genetics RCV003462938 SCV004207981 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-07-12 criteria provided, single submitter clinical testing

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