ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter) (rs1438288380)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814549 SCV000954962 pathogenic Walker-Warburg congenital muscular dystrophy 2018-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys290*) in the FKTN gene. It is expected to result in an absent or disrupted protein product. 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. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). For these reasons, this variant has been classified as Pathogenic.

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