ClinVar Miner

Submissions for variant NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs)

dbSNP: rs1554754678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598091 SCV000708157 pathogenic not provided 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV001854092 SCV002236732 pathogenic Walker-Warburg congenital muscular dystrophy 2023-09-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 501684). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln220Thrfs*6) 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).

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