ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.25G>T (p.Val9Phe) (rs145387221)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000735003 SCV000863190 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000735003 SCV000196828 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FKTN gene. The V9F variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 12/10400 (0.1%) alleles from individuals of African ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Nevertheless, the V9F variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties.

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