ClinVar Miner

Submissions for variant NC_000009.11:g.(?_108358859)_(108366793_?)del

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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 RCV004581868 SCV005067209 pathogenic Walker-Warburg congenital muscular dystrophy 2022-11-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-6 of the FKTN gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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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