ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr)

gnomAD frequency: 0.00001  dbSNP: rs1060502604
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473770 SCV000550228 uncertain significance Fanconi anemia complementation group O 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 184 of the RAD51C protein (p.Ala184Thr). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 409864). 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 expected to disrupt RAD51C protein function. 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.
Color Diagnostics, LLC DBA Color Health RCV000579716 SCV000686361 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579716 SCV001186179 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-04 criteria provided, single submitter clinical testing The p.A184T variant (also known as c.550G>A), located in coding exon 3 of the RAD51C gene, results from a G to A substitution at nucleotide position 550. The alanine at codon 184 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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.
Sema4, Sema4 RCV000579716 SCV002531828 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-16 criteria provided, single submitter curation
Genetics and Molecular Pathology, SA Pathology RCV002466509 SCV002761832 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2021-02-08 criteria provided, single submitter clinical testing
GeneDx RCV003153631 SCV003842493 uncertain significance not provided 2023-03-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 14704354)

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