ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.439C>A (p.Leu147Ile) (rs727502846)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000149974 SCV000196830 uncertain significance not provided 2017-11-29 criteria provided, single submitter clinical testing p.Leu147Ile (CTA>ATA): c.439 C>A in exon 6 of the FKTN gene (NM_001079802.1) The L147I variant in the FKTN gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The L147I variant is a conservative amino acid substitution, as these residues share similar properties, and are least likely to impact secondary structure. The L147 residue is well conserved across species. In silico analysis predicts L147I is possibly damaging to the protein structure/function. The L147I variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, no mutations in nearby residues have been reported. With the clinical and molecular information available at this time, we cannot definitively determine if L147I is a disease-causing mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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