Submissions for variant NM_058216.3(RAD51C):c.258A>T (p.Thr86=)

gnomAD frequency: 0.00017  dbSNP: rs149228565

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001087739	SCV000291217	likely benign	Fanconi anemia complementation group O	2024-01-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000766483	SCV000294044	uncertain significance	not provided	2022-11-02	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000766483	SCV000602138	uncertain significance	not provided	2022-09-23	criteria provided, single submitter	clinical testing	To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00044 (11/24966 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect RAD51C mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Ambry Genetics	RCV000575965	SCV000663760	likely benign	Hereditary cancer-predisposing syndrome	2015-05-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000575965	SCV000911186	likely benign	Hereditary cancer-predisposing syndrome	2015-11-16	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV003315240	SCV004014961	likely benign	Hereditary breast ovarian cancer syndrome	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897566	SCV004710005	likely benign	RAD51C-related condition	2021-11-04	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).