ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.905G>A (p.Cys302Tyr)

dbSNP: rs1554757939
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527420 SCV000630825 uncertain significance Walker-Warburg congenital muscular dystrophy 2017-05-05 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 302 of the FKTN protein (p.Cys302Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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