ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter)

dbSNP: rs1330937621
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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 RCV001207027 SCV001378364 pathogenic Fanconi anemia complementation group O 2019-08-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly189*) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with RAD51C-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). 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.
Ambry Genetics RCV002348676 SCV002652380 pathogenic Hereditary cancer-predisposing syndrome 2018-08-03 criteria provided, single submitter clinical testing The p.G189* pathogenic mutation (also known as c.565G>T), located in coding exon 3 of the RAD51C gene, results from a G to T substitution at nucleotide position 565. This changes the amino acid from a glycine to a stop codon within coding exon 3. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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