ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.528dup (p.His177fs) (rs1588112379)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825524 SCV000966839 likely pathogenic Fukuyama congenital muscular dystrophy 2018-08-08 criteria provided, single submitter clinical testing The p.His177SerfsX2 variant in FKTN has not been previously reported in individu als with muscular dystrophy, and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino aci d sequence beginning at position 177 and leads to a premature termination codon 2 amino acids downstream. This alteration is then predicted to lead to a truncat ed or absent protein. In summary, although additional studies are required to fu lly establish its clinical significance, the p.His177SerfsX2 variant is likely p athogenic. ACMG/AMP Criteria applied: PVS1, PM2.

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