ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs)

dbSNP: rs2148383945
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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 RCV002006950 SCV002293835 pathogenic X-linked myopathy with postural muscle atrophy 2023-10-03 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FHL1 gene (p.Cys273Ilefs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the FHL1 protein and extend the protein by 9 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1506742). 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. For these reasons, this variant has been classified as Pathogenic.

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