ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.536G>C (p.Arg179Thr) (rs119463994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441410 SCV000520899 likely pathogenic not provided 2016-12-19 criteria provided, single submitter clinical testing The R179T variant in the FKTN gene has been reported previously in the heterozygous state in individuals with Fukuyama congenital muscular dystrophy who were also heterozygous for the common insertion in the 3' untranslated region of FKTN; however, phase was not proven in most of these individuals and in vitro functional studies were not included (Murakami et al., 2006; Amiya et al., 2016). Cardiomyopathy was the primary presenting feature in all individuals; muscular, cognitive, neurological, and ocular abnormalities were minimal or absent (Murakami et al., 2006; Amiya et al., 2016). The R179T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R179T 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 that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. The R179T variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000003365 SCV000023523 pathogenic Dilated cardiomyopathy 1X 2006-11-01 no assertion criteria provided literature only

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