ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.414del (p.Trp138fs)

dbSNP: rs2148375686
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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 RCV001934807 SCV002135039 pathogenic X-linked myopathy with postural muscle atrophy 2021-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp122Cysfs*30) in the FHL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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