ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1186A>C (p.Lys396Gln) (rs1477740717)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516301 SCV000613312 uncertain significance not specified 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000767062 SCV000620728 uncertain significance not provided 2017-09-11 criteria provided, single submitter clinical testing The c.1186 A>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1186 A>C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Multiple in-silico splice prediction models predict that c.1186 A>C creates a cryptic splice acceptor site which may supplant the natural acceptor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies the actual effect of c.1186 A>C on splicing in this individual is unknown. If c.1186 A>C does not alter splicing, it will result in the K396Q missense change. The K396Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Lysine 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.

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