ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)

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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 RCV002725419 SCV002995460 pathogenic X-linked myopathy with postural muscle atrophy 2023-10-22 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FHL1 gene (p.His251Glnfs*33). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the FHL1 protein and extend the protein by 2 additional amino acid residues. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This variant disrupts a region of the FHL1 protein in which other variant(s) (p.Cys276Tyr) have been determined to be pathogenic (PMID: 19716112). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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