ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1A>T (p.Met1Leu)

dbSNP: rs921435798
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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 RCV001013982 SCV001174632 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-30 criteria provided, single submitter clinical testing The p.M1? variant (also known as c.1A>T) is located in coding exon 1 of the RAD51C gene and results from a A to T substitution at nucleotide position 1. This alters the methionine residue at the initiation codon. Variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame; however, there is an in-frame methionine 9 amino acids from the initiation site, which may result in N-terminal truncation of unknown functional significance. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001013982 SCV001348464 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001324864 SCV001515830 uncertain significance Fanconi anemia complementation group O 2023-09-10 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. ClinVar contains an entry for this variant (Variation ID: 820482). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the RAD51C mRNA. The next in-frame methionine is located at codon 10.

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