ClinVar Miner

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

dbSNP: rs537001725
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000153239 SCV000221624 likely pathogenic not provided criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000153239 SCV000331565 pathogenic not provided 2014-03-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000153239 SCV000613317 likely pathogenic not provided 2018-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001068213 SCV001233310 pathogenic Walker-Warburg congenital muscular dystrophy 2024-02-12 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. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). This variant is present in population databases (rs537001725, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with clinical features FKTN-related disease (PMID: 27124789, 28688748). ClinVar contains an entry for this variant (Variation ID: 167069). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000153239 SCV002023724 pathogenic not provided 2020-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000153239 SCV002562359 pathogenic not provided 2022-08-10 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32906206, 27124789, 31641664, 28556411, 28688748)
Fulgent Genetics, Fulgent Genetics RCV002492573 SCV002798430 pathogenic Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2022-02-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474809 SCV004199726 pathogenic Dilated cardiomyopathy 1X 2023-11-20 criteria provided, single submitter clinical testing
Counsyl RCV000984176 SCV001132193 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2014-07-31 no assertion criteria provided clinical testing

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