ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp)

gnomAD frequency: 0.00001  dbSNP: rs1208639233
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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 RCV001215398 SCV001387140 uncertain significance Walker-Warburg congenital muscular dystrophy 2024-11-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 146 of the FKTN protein (p.Arg146Trp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 944896). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FKTN 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 RCV003294036 SCV003993410 uncertain significance Cardiovascular phenotype 2023-04-22 criteria provided, single submitter clinical testing The p.R146W variant (also known as c.436C>T), located in coding exon 4 of the FKTN gene, results from a C to T substitution at nucleotide position 436. The arginine at codon 146 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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