Submissions for variant NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)

gnomAD frequency: 0.03359  dbSNP: rs34006675

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079434	SCV000111313	benign	not specified	2012-12-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079434	SCV000151170	benign	not specified	2013-04-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000079434	SCV000168564	benign	not specified	2013-10-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000079434	SCV000306354	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460207	SCV000557842	benign	Walker-Warburg congenital muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620119	SCV000735198	benign	Cardiovascular phenotype	2015-05-27	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001794430	SCV000885465	benign	not provided	2023-11-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000003366	SCV001329721	likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics	RCV001794430	SCV005224816	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000003366	SCV000023524	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	2011-01-12	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079434	SCV001929401	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079434	SCV001973047	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001794430	SCV002035935	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000460207	SCV002079564	benign	Walker-Warburg congenital muscular dystrophy	2019-10-28	no assertion criteria provided	clinical testing