ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.619T>G (p.Phe207Val)

dbSNP: rs1461669175
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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 RCV002020548 SCV002306626 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 207 of the FKTN protein (p.Phe207Val). 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 variant has not been reported in the literature in individuals with FKTN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV003161211 SCV003857385 uncertain significance Cardiovascular phenotype 2023-03-01 criteria provided, single submitter clinical testing The p.F207V variant (also known as c.619T>G), located in coding exon 4 of the FKTN gene, results from a T to G substitution at nucleotide position 619. The phenylalanine at codon 207 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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