ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.247A>G (p.Ile83Val)

gnomAD frequency: 0.00003  dbSNP: rs757798867
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223814 SCV001395980 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 83 of the FKTN protein (p.Ile83Val). This variant is present in population databases (rs757798867, gnomAD 0.003%). 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: 951821). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003373054 SCV004096175 uncertain significance Cardiovascular phenotype 2023-06-29 criteria provided, single submitter clinical testing The p.I83V variant (also known as c.247A>G), located in coding exon 3 of the FKTN gene, results from an A to G substitution at nucleotide position 247. The isoleucine at codon 83 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001223814 SCV002078754 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-09-16 no assertion criteria provided clinical testing

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