ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.528dup (p.His177fs)

dbSNP: rs1588112379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825524 SCV000966839 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001825682 SCV002167648 pathogenic Walker-Warburg congenital muscular dystrophy 2021-05-04 criteria provided, single submitter clinical testing 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 conditions. ClinVar contains an entry for this variant (Variation ID: 666969). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.His177Serfs*2) in the FKTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264).
Baylor Genetics RCV004569793 SCV005057814 likely pathogenic Dilated cardiomyopathy 1X 2024-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825682 SCV002079578 likely pathogenic Walker-Warburg congenital muscular dystrophy 2020-03-03 no assertion criteria provided clinical testing

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