ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002452346 SCV002616413 uncertain significance Cardiovascular phenotype 2019-12-19 criteria provided, single submitter clinical testing The p.Q383H variant (also known as c.1149G>C), located in coding exon 8 of the FKTN gene, results from a G to C substitution at nucleotide position 1149. The glutamine at codon 383 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094268 SCV003245220 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 383 of the FKTN protein (p.Gln383His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV003156377 SCV003845697 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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