ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)

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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 RCV003056812 SCV003447012 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-01-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 279 of the FKTN protein (p.Glu279Lys). This variant is present in population databases (rs775571457, gnomAD 0.004%). 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.
Ambry Genetics RCV003171009 SCV003857381 uncertain significance Cardiovascular phenotype 2023-02-04 criteria provided, single submitter clinical testing The p.E279K variant (also known as c.835G>A), located in coding exon 6 of the FKTN gene, results from a G to A substitution at nucleotide position 835. The glutamic acid at codon 279 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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