Submissions for variant NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)

gnomAD frequency: 0.00809  dbSNP: rs41313301

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079428	SCV000111307	benign	not specified	2012-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000079428	SCV000168566	benign	not specified	2014-01-17	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.
Genetic Services Laboratory, University of Chicago	RCV000079428	SCV000247383	likely benign	not specified	2015-08-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231310	SCV000285815	benign	Walker-Warburg congenital muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079428	SCV000306351	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620456	SCV000735081	benign	Cardiovascular phenotype	2015-06-29	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.
Athena Diagnostics	RCV000991977	SCV001143895	benign	not provided	2019-07-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001167309	SCV001329789	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). 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.
Illumina Laboratory Services, Illumina	RCV001167904	SCV001330450	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000991977	SCV001472073	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001167309	SCV001653388	likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029801	SCV000052456	benign	Cardiomyopathy	2015-05-20	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079428	SCV001742832	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000991977	SCV001921522	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079428	SCV001932033	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079428	SCV001964516	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000991977	SCV002036574	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000231310	SCV002081989	benign	Walker-Warburg congenital muscular dystrophy	2021-02-26	no assertion criteria provided	clinical testing