ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.899C>T (p.Ala300Val)

gnomAD frequency: 0.00001  dbSNP: rs1444333199
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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 RCV000570196 SCV000667114 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-29 criteria provided, single submitter clinical testing The p.A300V variant (also known as c.899C>T), located in coding exon 6 of the RAD51C gene, results from a C to T substitution at nucleotide position 899. The alanine at codon 300 is replaced by valine, an amino acid with 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.
Invitae RCV000648222 SCV000770036 uncertain significance Fanconi anemia complementation group O 2023-04-09 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RAD51C protein function. ClinVar contains an entry for this variant (Variation ID: 482166). This missense change has been observed in individual(s) with breast cancer (PMID: 33646313). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 300 of the RAD51C protein (p.Ala300Val).
PreventionGenetics, part of Exact Sciences RCV003409839 SCV004115617 uncertain significance RAD51C-related condition 2023-05-09 criteria provided, single submitter clinical testing The RAD51C c.899C>T variant is predicted to result in the amino acid substitution p.Ala300Val. This alteration has been reported as a variant of uncertain significance in individuals with cancer (breast, endometrial; George et al. 2021. PubMed ID: 33646313; Ring et al. 2016. PubMed ID: 27443514). In ClinVar this change is classified as uncertain by multiple labs (https://preview.ncbi.nlm.nih.gov/clinvar/variation/482166/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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