ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.618del (p.Cys207fs)

dbSNP: rs2148378462
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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 RCV001953587 SCV002246472 pathogenic X-linked myopathy with postural muscle atrophy 2021-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the FHL1 protein. Other variant(s) that disrupt this region (p.Cys209Thrfs*50) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with FHL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys191Alafs*67) in the FHL1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acid(s) of the FHL1 protein.

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