ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1153A>T (p.Lys385Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804630 SCV000944547 pathogenic Walker-Warburg congenital muscular dystrophy 2018-07-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKTN gene (p.Lys385*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 77 amino acids of the FKTN protein. 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 disease. A different truncation (p.Phe390Ilefs*14) that lies downstream of this variant has been determined to be pathogenic (PMID: 17878207, 18177472, 18752264, 19266496, 27065010). This suggests that deletion of this region of the FKTN protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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