ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.187_188del (p.Met63fs)

dbSNP: rs587777813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512701 SCV003441303 pathogenic Walker-Warburg congenital muscular dystrophy 2022-05-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met63Valfs*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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fukuyama-type congenital muscular dystrophy (PMID: 9690476). ClinVar contains an entry for this variant (Variation ID: 3201). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003354 SCV000023512 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 1998-07-23 no assertion criteria provided literature only

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