ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)

dbSNP: rs754081311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044980 SCV001208807 pathogenic Walker-Warburg congenital muscular dystrophy 2022-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln220*) 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 present in population databases (rs754081311, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with clinical features of FKTN-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 842546). For these reasons, this variant has been classified as Pathogenic.

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