ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)

gnomAD frequency: 0.02093  dbSNP: rs41277797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079431 SCV000111310 benign not specified 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000079431 SCV000168563 benign not specified 2014-01-08 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000079431 SCV000269112 benign not specified 2016-03-03 criteria provided, single submitter clinical testing p.Arg56Cys in exon 5 of FKTN: This variant is not expected to have clinical sign ificance because it has been identified in 3.7% (1650/44834) of European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs41277797).
Preventiongenetics, part of Exact Sciences RCV000079431 SCV000306353 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368379 SCV000476415 uncertain significance Dilated cardiomyopathy 1X 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000397538 SCV000476416 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000466034 SCV000557840 benign Walker-Warburg congenital muscular dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000079431 SCV000613316 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619307 SCV000735023 benign Cardiovascular phenotype 2015-09-10 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001572926 SCV001156898 benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000397538 SCV001653410 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2021-05-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079431 SCV000151168 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572926 SCV001798037 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001572926 SCV001922894 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000079431 SCV001931758 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000466034 SCV002078747 benign Walker-Warburg congenital muscular dystrophy 2020-06-04 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.