ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1099del (p.Val367fs)

dbSNP: rs1554761310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672890 SCV000798040 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2018-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001218213 SCV001390085 pathogenic Walker-Warburg congenital muscular dystrophy 2019-06-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKTN gene (p.Val367Phefs*39). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 95 amino acids of the FKTN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 556831). This variant disrupts the C-terminus of the FKTN protein. Other variant(s) that disrupt this region (p.Phe390Ilefs*14) have been determined to be pathogenic (PMID: 17878207, 18177472, 18752264, 19266496, 27065010). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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