ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.473dup (p.Leu160fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003055568 SCV003348148 pathogenic Walker-Warburg congenital muscular dystrophy 2022-04-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FKTN-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu160Profs*19) in the FKTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264).

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