ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.586G>T (p.Asp196Tyr) (rs756748012)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477010 SCV000546100 uncertain significance Walker-Warburg congenital muscular dystrophy 2016-08-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 196 of the FKTN protein (p.Asp196Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs756748012, ExAC 0.009%) but 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on 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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