ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.812dup (p.Cys271fs)

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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 RCV002856794 SCV003221026 pathogenic X-linked myopathy with postural muscle atrophy 2022-12-04 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FHL1 gene (p.Cys255Trpfs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the FHL1 protein and extend the protein by 2 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FHL1 protein in which other variant(s) (p.Cys276Tyr) have been determined to be pathogenic (PMID: 19716112, 22523091, 24634512). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FHL1-related conditions.

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