ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.793C>A (p.Leu265Ile)

dbSNP: rs759072716
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001294607 SCV001483488 uncertain significance Fanconi anemia complementation group O 2020-09-24 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RAD51C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 265 of the RAD51C protein (p.Leu265Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine.

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