ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1182T>G (p.Phe394Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003592423 SCV004247582 uncertain significance Walker-Warburg congenital muscular dystrophy 2023-11-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 394 of the FKTN protein (p.Phe394Leu). This variant is present in population databases (rs757023910, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FKTN protein function with a positive predictive value of 80%. 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.

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