ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr)

gnomAD frequency: 0.00001  dbSNP: rs886044478
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353693 SCV000345104 uncertain significance not provided 2016-09-19 criteria provided, single submitter clinical testing
Invitae RCV001850470 SCV002109172 uncertain significance Walker-Warburg congenital muscular dystrophy 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 48 of the FKTN protein (p.Ile48Thr). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 290533). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FKTN protein function with a negative predictive value of 80%. 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 RCV000353693 SCV003832698 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372683 SCV004096174 uncertain significance Cardiovascular phenotype 2023-06-25 criteria provided, single submitter clinical testing The p.I48T variant (also known as c.143T>C), located in coding exon 2 of the FKTN gene, results from a T to C substitution at nucleotide position 143. The isoleucine at codon 48 is replaced by threonine, 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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