ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) (rs41313301)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
Invitae RCV000231310 SCV000285815 benign Walker-Warburg congenital muscular dystrophy 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics 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: 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 Inc RCV000991977 SCV001143895 benign not provided 2019-07-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001167309 SCV001329789 likely benign Fukuyama congenital muscular dystrophy 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 Clinical Services Laboratory,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 RCV001285611 SCV001472073 benign none provided 2020-02-09 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001167309 SCV001653388 likely benign Fukuyama congenital muscular dystrophy 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.