ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.977_979del (p.Leu326del)

dbSNP: rs2144044664
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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 RCV001911160 SCV002167266 uncertain significance Fanconi anemia complementation group O 2021-07-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RAD51C-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (ExAC no frequency). This variant, c.977_979del, results in the deletion of 1 amino acid(s) of the RAD51C protein (p.Leu326del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV002370460 SCV002689429 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-24 criteria provided, single submitter clinical testing The c.977_979delTGT variant (also known as p.L326del) is located in coding exon 8 of the RAD51C gene. This variant results from an in-frame TGT deletion at nucleotide positions 977 to 979. This results in the in-frame deletion of a leucine at codon 326. The deleted amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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