ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002400483 SCV002673561 uncertain significance Cardiovascular phenotype 2022-05-24 criteria provided, single submitter clinical testing The p.R256Q variant (also known as c.767G>A), located in coding exon 5 of the FKTN gene, results from a G to A substitution at nucleotide position 767. The arginine at codon 256 is replaced by glutamine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099712 SCV003518266 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 256 of the FKTN protein (p.Arg256Gln). This variant is present in population databases (rs765860949, gnomAD 0.003%). 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 tolerated. 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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