ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002995662 SCV003296796 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 160 of the FKTN protein (p.Leu160Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003308400 SCV004001243 uncertain significance Cardiovascular phenotype 2023-05-27 criteria provided, single submitter clinical testing The p.L160P variant (also known as c.479T>C), located in coding exon 4 of the FKTN gene, results from a T to C substitution at nucleotide position 479. The leucine at codon 160 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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