ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.58T>G (p.Phe20Val)

dbSNP: rs1554731003
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538044 SCV000630820 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-10-03 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 20 of the FKTN protein (p.Phe20Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with LBBB, PVC, atrial fibrillation, nonischemic cardiomyopathy (Invitae). 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.
Eurofins Ntd Llc (ga) RCV000730719 SCV000858480 uncertain significance not provided 2017-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000730719 SCV002003652 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000730719 SCV003832678 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619323 SCV005118148 uncertain significance Cardiovascular phenotype 2024-03-16 criteria provided, single submitter clinical testing The p.F20V variant (also known as c.58T>G), located in coding exon 1 of the FKTN gene, results from a T to G substitution at nucleotide position 58. The phenylalanine at codon 20 is replaced by valine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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