ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1287del (p.Pro430fs)

dbSNP: rs2133452242
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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 RCV002003146 SCV002275881 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-11-27 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with FKTN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro430Leufs*2) in the FKTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the FKTN protein.

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