ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.429del (p.Asp144fs)

dbSNP: rs1057516258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410463 SCV000485369 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2015-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850944 SCV002195939 pathogenic Walker-Warburg congenital muscular dystrophy 2023-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp144Ilefs*4) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 370133). For these reasons, this variant has been classified as Pathogenic.

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