ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)

dbSNP: rs1191211949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387580 SCV001588248 pathogenic X-linked myopathy with postural muscle atrophy 2020-04-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp181*) in the FHL1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with FHL1-related conditions (PMID: 26265627). Loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005050370 SCV005683336 pathogenic Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy 2024-04-16 criteria provided, single submitter clinical testing

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