ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg)

dbSNP: rs876659009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708747 SCV000822174 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000989965 SCV001140727 uncertain significance Fanconi anemia complementation group O 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989965 SCV002213182 uncertain significance Fanconi anemia complementation group O 2020-11-15 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Benign"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) undergoing hereditary cancer genetic testing (PMID: 31159747). ClinVar contains an entry for this variant (Variation ID: 584558). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 304 of the RAD51C protein (p.Ser304Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.
Ambry Genetics RCV000708747 SCV002686037 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-22 criteria provided, single submitter clinical testing The p.S304R variant (also known as c.912T>G), located in coding exon 7 of the RAD51C gene, results from a T to G substitution at nucleotide position 912. The serine at codon 304 is replaced by arginine, an amino acid with dissimilar 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.

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