Submissions for variant NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)

gnomAD frequency: 0.25357  dbSNP: rs34787999

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079437	SCV000111316	benign	not specified	2015-09-08	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079437	SCV000269113	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Arg203Gln in exon 6 of FKTN: This variant is not expected to have clinical sig nificance because it has been identified in 31.9% (2743/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs34787999).
PreventionGenetics, part of Exact Sciences	RCV000079437	SCV000306356	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000322229	SCV000476423	likely benign	Dilated cardiomyopathy 1X	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.
Illumina Laboratory Services, Illumina	RCV000379215	SCV000476424	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.
Athena Diagnostics	RCV000576490	SCV000677293	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	2017-04-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000622089	SCV000734990	benign	Cardiovascular phenotype	2015-03-11	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.
Mendelics	RCV000379215	SCV001137884	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001510532	SCV001717590	benign	Walker-Warburg congenital muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001682766	SCV001902431	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000322229	SCV001933492	benign	Dilated cardiomyopathy 1X	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000379215	SCV001933493	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701657	SCV001933494	benign	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701496	SCV001933495	benign	Autosomal recessive limb-girdle muscular dystrophy type 2M	2021-08-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477228	SCV002800267	benign	Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	2021-07-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079437	SCV000151172	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079437	SCV001743260	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079437	SCV001919424	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079437	SCV001959207	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079437	SCV001975999	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001510532	SCV002079586	benign	Walker-Warburg congenital muscular dystrophy	2019-11-20	no assertion criteria provided	clinical testing