ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.139C>T (p.Arg47Ter) (rs119463990)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594458 SCV000700729 pathogenic not provided 2017-03-17 criteria provided, single submitter clinical testing
Invitae RCV000811518 SCV000951786 pathogenic Walker-Warburg congenital muscular dystrophy 2018-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg47*) in the FKTN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs119463990, ExAC 0.01%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in individuals affected with Fukuyama-type congenital muscular dystrophy (PMID: 9690476, 19842201, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has been observed in combination with another FKTN variant in individuals affected with Fukuyama-type congenital muscular dystrophy or Walker-Warburg syndrome (PMID: 25814170, 19179078, 20961758). ClinVar contains an entry for this variant (Variation ID: 3200). Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003353 SCV000023511 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 1998-07-23 no assertion criteria provided literature only

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