Submissions for variant NM_032444.4(SLX4):c.590T>C (p.Val197Ala)

gnomAD frequency: 0.00115  dbSNP: rs147826749

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084818	SCV000291097	benign	Fanconi anemia	2024-01-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000502872	SCV000597165	likely benign	not specified	2021-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000234484	SCV001150776	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SLX4: BP4
Illumina Laboratory Services, Illumina	RCV001120033	SCV001278495	benign	Fanconi anemia complementation group P	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Baylor Genetics	RCV001120033	SCV001482662	likely benign	Fanconi anemia complementation group P		criteria provided, single submitter	clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	RCV001120033	SCV001775517	uncertain significance	Fanconi anemia complementation group P	2021-03-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000234484	SCV001797271	likely benign	not provided	2021-03-26	criteria provided, single submitter	clinical testing	Identified in the heterozygous state in individuals with familial breast cancer or with bone marrow failure (Landwehr et al., 2011; Fernandez-Rodriguez et al., 2012; Bakker et al., 2013; Shah et al., 2013; Maxwell et al., 2016; Arias-Salgado et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27153395, 21805310, 23840564, 22401137, 22911665, 30995915)
Sema4, Sema4	RCV001084818	SCV002529387	benign	Fanconi anemia	2020-11-29	criteria provided, single submitter	curation
Leiden Open Variation Database	RCV000502872	SCV001364641	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.
PreventionGenetics, part of Exact Sciences	RCV003939891	SCV004748206	likely benign	SLX4-related disorder	2024-01-17	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).