Submissions for variant NM_032444.4(SLX4):c.422G>T (p.Gly141Val)

gnomAD frequency: 0.00131  dbSNP: rs77306735

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000766462	SCV000573762	uncertain significance	not provided	2018-05-17	criteria provided, single submitter	clinical testing	The G141V variant in the SLX4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G141V variant is observed in 105/24034 (0.44%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016). The G141V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret G141V as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago	RCV000478235	SCV000597166	uncertain significance	not specified	2015-09-25	criteria provided, single submitter	clinical testing
Invitae	RCV001087098	SCV000626431	likely benign	Fanconi anemia	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001120334	SCV001278814	likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Sema4, Sema4	RCV001087098	SCV002529344	likely benign	Fanconi anemia	2020-12-01	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000766462	SCV002545739	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	SLX4: BP4
PreventionGenetics, part of Exact Sciences	RCV003902732	SCV004722438	likely benign	SLX4-related condition	2022-02-10	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).