Submissions for variant NM_058216.3(RAD51C):c.783A>G (p.Leu261=)

gnomAD frequency: 0.00003  dbSNP: rs138643096

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163867	SCV000214454	likely benign	Hereditary cancer-predisposing syndrome	2015-01-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081962	SCV000253645	likely benign	Fanconi anemia complementation group O	2024-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000759336	SCV000515582	likely benign	not provided	2019-12-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163867	SCV000686390	likely benign	Hereditary cancer-predisposing syndrome	2015-12-28	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759336	SCV000888604	likely benign	not provided	2017-06-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163867	SCV002530015	likely benign	Hereditary cancer-predisposing syndrome	2021-03-12	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000426427	SCV005205020	likely benign	not specified	2024-06-07	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV004794369	SCV005415615	likely benign	Hereditary breast ovarian cancer syndrome	2024-11-12	criteria provided, single submitter	clinical testing	The synonymous variant NM_058216.3(RAD51C):c.783A>G (p.Leu261=) has been reported to ClinVar as Likely benign with a status of (2 stars) criteria provided, multiple submitters, no conflicts (Variation ID 184589 as of 2024-10-03). The p.Leu261= variant is not predicted to disrupt an existing splice site. The p.Leu261= variant results in a substitution of a base that is not predicted conserved by GERP++ and PhyloP. For these reasons, this variant has been classified as Likely Benign
Leiden Open Variation Database	RCV000426427	SCV001365276	likely benign	not specified	2014-11-02	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Christine Rappaport.
PreventionGenetics, part of Exact Sciences	RCV004535086	SCV004713621	likely benign	RAD51C-related disorder	2024-02-22	no assertion criteria provided	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).