ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe) (rs876659683)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223596 SCV000276397 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-05 criteria provided, single submitter clinical testing Insufficient or Conflicting Evidence
Integrated Genetics/Laboratory Corporation of America RCV000586089 SCV000699828 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing Variant summary: The RAD51C c.86C>T (p.Ser29Phe) variant involves the alteration of a non-conserved nucleotide. Ser29 is not conserved across species and is not located in a known functional domain; additionally, 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). However, the variant has not been evaluated for functional impact by in vivo/vitro studies. This variant was absent in 121294 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications. One clinical diagnostic laboratory classified this variant as uncertain significance. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000648262 SCV000770076 uncertain significance Fanconi anemia, complementation group O 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 29 of the RAD51C protein (p.Ser29Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 232301). 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. 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.

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