ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810998 SCV000951241 uncertain significance Walker-Warburg congenital muscular dystrophy 2018-07-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKTN gene (p.Trp427Serfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 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. The observation of one or more missense substitutions downstream of this variant (p.Asn442Ser) in affected individuals suggests that this may be a clinically significant region of the FKTN protein (PMID: 28785732). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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