ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.411G>T (p.Gln137His)

dbSNP: rs1555594552
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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 RCV000573789 SCV000667129 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-10 criteria provided, single submitter clinical testing The p.Q137H variant (also known as c.411G>T), located in coding exon 3 of the RAD51C gene, results from a G to T substitution at nucleotide position 411. The glutamine at codon 137 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001320912 SCV001511720 uncertain significance Fanconi anemia complementation group O 2022-01-28 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 482177). 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 replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 137 of the RAD51C protein (p.Gln137His).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987607 SCV004803327 uncertain significance not specified 2024-01-14 criteria provided, single submitter clinical testing

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