ClinVar Miner

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

gnomAD frequency: 0.25357  dbSNP: rs34787999
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Total submissions: 21
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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 Inc 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: 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

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