ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710133 SCV000613315 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710133 SCV000334290 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
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.
Illumina Clinical Services Laboratory,Illumina RCV000405586 SCV000476413 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311406 SCV000476414 uncertain significance Fukuyama congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029802 SCV000052457 uncertain Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Invitae RCV000535971 SCV000630817 benign Walker-Warburg congenital muscular dystrophy 2017-12-22 criteria provided, single submitter clinical testing

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