ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1106del (p.Phe369fs) (rs750176716)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411430 SCV000486566 likely pathogenic Fukuyama congenital muscular dystrophy 2016-06-24 criteria provided, single submitter clinical testing
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000411430 SCV000924454 likely pathogenic Fukuyama congenital muscular dystrophy 2019-01-01 criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000411430 SCV000698715 likely pathogenic Fukuyama congenital muscular dystrophy 2016-05-19 criteria provided, single submitter clinical testing Variant summary: The FKTN c.1106delT (p.Phe369Serfs) variant results in a premature termination codon, predicted to cause a truncated or absent FKTN protein due to nonsense mediated decay, which is a commonly known mechanism for disease. A truncation downstream of this position has been classified as pathogenic by our laboratory (c.1167dupA). This variant is absent in approximately 120560 control chromosomes from ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is currently classified as Likely Pathogenic.
Invitae RCV000801939 SCV000941744 pathogenic Walker-Warburg congenital muscular dystrophy 2018-11-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKTN gene (p.Phe369Serfs*37). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 93 amino acids of the FKTN protein. This variant is present in population databases (rs750176716, ExAC 0.01%). This variant has not been reported in the literature in individuals with FKTN-related disease. ClinVar contains an entry for this variant (Variation ID: 371091). This variant disrupts the C-terminus of the FKTN protein. Other variant(s) that disrupt this region (p.Phe390Ilefs*14) have been determined to be pathogenic (PMID: 17878207, 18177472, 18752264, 19266496, 27065010). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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