ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.598A>G (p.Thr200Ala)

dbSNP: rs1369125082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776843 SCV000912505 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 200 of the RAD51C protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RAD51C-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000776843 SCV001186833 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-19 criteria provided, single submitter clinical testing The p.T200A variant (also known as c.598A>G), located in coding exon 4 of the RAD51C gene, results from an A to G substitution at nucleotide position 598. The threonine at codon 200 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001238382 SCV001411188 uncertain significance Fanconi anemia complementation group O 2023-03-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 200 of the RAD51C protein (p.Thr200Ala). 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) performed at Invitae indicates that this missense variant is not expected to disrupt RAD51C protein function. ClinVar contains an entry for this variant (Variation ID: 630837). 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).
Baylor Genetics RCV003461042 SCV004207952 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-09-06 criteria provided, single submitter clinical testing

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