ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.793G>C (p.Asp265His)

gnomAD frequency: 0.00001  dbSNP: rs1372525892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002033976 SCV002316161 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-09-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with histidine at codon 265 of the FKTN protein (p.Asp265His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. 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: "Possibly 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.
Ambry Genetics RCV004044750 SCV005037359 uncertain significance Cardiovascular phenotype 2023-09-30 criteria provided, single submitter clinical testing The p.D265H variant (also known as c.793G>C), located in coding exon 6 of the FKTN gene, results from a G to C substitution at nucleotide position 793. The aspartic acid at codon 265 is replaced by histidine, an amino acid with similar 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793713 SCV005410779 uncertain significance not provided 2023-10-30 criteria provided, single submitter clinical testing PM2

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