ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.330dup (p.Thr111fs)

dbSNP: rs767865405
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000378928 SCV000332847 pathogenic not provided 2015-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000378928 SCV001812991 likely pathogenic not provided 2021-05-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Frameshift 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: 30564623)
Invitae RCV001855091 SCV002236733 pathogenic Walker-Warburg congenital muscular dystrophy 2023-06-03 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: 281839). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is present in population databases (rs767865405, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Thr111Tyrfs*13) 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).
Fulgent Genetics, Fulgent Genetics RCV002487188 SCV002785081 likely 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 2021-09-12 criteria provided, single submitter clinical testing
Counsyl RCV000412460 SCV000486169 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2016-04-08 no assertion criteria provided clinical testing

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