ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)

gnomAD frequency: 0.00001  dbSNP: rs119463991
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067436 SCV001232499 pathogenic Walker-Warburg congenital muscular dystrophy 2023-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3206). This premature translational stop signal has been observed in individuals with clinical features of muscular dystrophy-dystroglycanopathy (PMID: 14627679, 25814170). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln116*) 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000003360 SCV002570822 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2022-07-11 criteria provided, single submitter clinical testing Variant summary: FKTN c.346C>T (p.Gln116X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249418 control chromosomes. c.346C>T has been reported in the literature in individuals affected with Walker-Warburg Syndrome or related disorders. These data indicate that the variant may be associated with disease. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003472963 SCV004199761 pathogenic Dilated cardiomyopathy 1X 2024-03-12 criteria provided, single submitter clinical testing
OMIM RCV000003360 SCV000023518 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2003-11-01 no assertion criteria provided literature only
Natera, Inc. RCV001067436 SCV002078761 pathogenic Walker-Warburg congenital muscular dystrophy 2020-07-15 no assertion criteria provided clinical testing

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