ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.454dup (p.Ser152fs)

dbSNP: rs587777748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851611 SCV002241943 pathogenic Walker-Warburg congenital muscular dystrophy 2020-11-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Walker-Warburg syndrome (PMID: 12601708). It is also known as nt504(insT). ClinVar contains an entry for this variant (Variation ID: 3205). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser152Phefs*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).
Baylor Genetics RCV004566676 SCV005057809 pathogenic Dilated cardiomyopathy 1X 2024-02-19 criteria provided, single submitter clinical testing
OMIM RCV000003359 SCV000023517 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2003-03-01 no assertion criteria provided literature only

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