ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) (rs537001725)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153239 SCV000331565 pathogenic not provided 2014-03-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000153239 SCV000613317 likely pathogenic not provided 2018-03-14 criteria provided, single submitter clinical testing
Invitae RCV001068213 SCV001233310 pathogenic Walker-Warburg congenital muscular dystrophy 2019-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys137*) in the FKTN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs537001725, ExAC 0.03%). This variant has been observed in individuals affected with clinical features FKTN-related disease (PMID: 27124789, 28688748). ClinVar contains an entry for this variant (Variation ID: 167069). Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). For these reasons, this variant has been classified as Pathogenic.
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000153239 SCV000221624 likely pathogenic not provided no assertion criteria provided research
Counsyl RCV000984176 SCV001132193 likely pathogenic Fukuyama congenital muscular dystrophy 2014-07-31 no assertion criteria provided clinical testing

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