ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.821G>A (p.Arg274Gln)

gnomAD frequency: 0.00003  dbSNP: rs767503045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927794 SCV002173367 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-19 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 274 of the FKTN protein (p.Arg274Gln). This variant is present in population databases (rs767503045, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1404650). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity RCV003146332 SCV003832697 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042629 SCV005037360 uncertain significance Cardiovascular phenotype 2024-01-17 criteria provided, single submitter clinical testing The p.R274Q variant (also known as c.821G>A), located in coding exon 6 of the FKTN gene, results from a G to A substitution at nucleotide position 821. The arginine at codon 274 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 tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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