ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.220C>A (p.Leu74Ile) (rs1060501407)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467420 SCV000546099 uncertain significance Walker-Warburg congenital muscular dystrophy 2018-09-13 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 74 of the FKTN protein (p.Leu74Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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