ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.58T>G (p.Phe20Val) (rs1554731003)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730719 SCV000858480 uncertain significance not provided 2017-12-05 criteria provided, single submitter clinical testing
Invitae RCV000538044 SCV000630820 uncertain significance Walker-Warburg congenital muscular dystrophy 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 20 of the FKTN protein (p.Phe20Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FKTN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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