ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)

gnomAD frequency: 0.00001  dbSNP: rs1309132512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671524 SCV000796508 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000800445 SCV000940160 pathogenic Walker-Warburg congenital muscular dystrophy 2018-11-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). This variant has been observed in an individual affected with muscular dystrophy (PMID: 19396839). ClinVar contains an entry for this variant (Variation ID: 555661). This sequence change creates a premature translational stop signal (p.Leu15*) in the FKTN gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV002282313 SCV000023530 pathogenic Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2009-05-26 no assertion criteria provided literature only

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