ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1305C>G (p.Asp435Glu)

dbSNP: rs1043227892
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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 RCV001879187 SCV002141873 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-09-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 435 of the FKTN protein (p.Asp435Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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.
GeneDx RCV004774494 SCV005386967 uncertain significance not provided 2024-02-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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