ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)

gnomAD frequency: 0.00014  dbSNP: rs146049441
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000406544 SCV000339912 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766039 SCV000897478 uncertain significance Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-07-05 criteria provided, single submitter clinical testing
Invitae RCV000798367 SCV000937981 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 128 of the FKTN protein (p.Arg128Gln). This variant is present in population databases (rs146049441, gnomAD 0.01%). 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: 286471). 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. 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 RCV002356387 SCV002621668 uncertain significance Cardiovascular phenotype 2023-07-27 criteria provided, single submitter clinical testing The p.R128Q variant (also known as c.383G>A), located in coding exon 4 of the FKTN gene, results from a G to A substitution at nucleotide position 383. The arginine at codon 128 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine is the reference amino acid in other vertebrate species. 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.
Revvity Omics, Revvity RCV000406544 SCV003832676 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000406544 SCV004225071 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000798367 SCV002079568 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-01-24 no assertion criteria provided clinical testing

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