ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.166-12T>A (rs1419099088)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579368 SCV000681096 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FKTN gene. The c.166-12 T>A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is also not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including splice predictors and evolutionary conservation, support a deleterious effect. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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