ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1009G>T (p.Asp337Tyr) (rs752721354)

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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 RCV000727449 SCV000708600 uncertain significance not provided 2017-05-16 criteria provided, single submitter clinical testing
GeneDx RCV000727449 SCV000620303 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FKTN gene. The D337Y variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D337Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Nevertheless, this substitution occurs at a position that is not conserved. Additionally, 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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