ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.166-4A>G (rs193922689)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029802 SCV000052457 uncertain Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
GeneDx RCV000149973 SCV000196829 uncertain significance not specified 2017-06-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FKTN gene. The c.166-4 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.166-4 A>G variant is observed in 29/5198 (0.6%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.166-4 A>G may destroy the natural splice acceptor site of intron 4 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710133 SCV000334290 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405586 SCV000476413 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 Clinical Services Laboratory,Illumina RCV000311406 SCV000476414 uncertain significance Fukuyama congenital muscular dystrophy 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.
Athena Diagnostics Inc RCV000710133 SCV000613315 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
Invitae RCV001086528 SCV000630817 benign Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710133 SCV001155699 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing

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