ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)

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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 RCV003625208 SCV004413793 pathogenic X-linked myopathy with postural muscle atrophy 2022-11-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr208*) in the FHL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). 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.
Molecular Genetics Laboratory, Motol Hospital RCV003625208 SCV005620007 pathogenic X-linked myopathy with postural muscle atrophy 2025-01-08 criteria provided, single submitter clinical testing null (truncating) variant in a gene where loss of function is a known mechanism of disease (PVS1), variant not present in gnomAD general population (v4.1.0) (PM2), reported as pathogenic (ClinVar Variation ID: 2813074) without independent laboratory evaluation (PP5); detected in a proband with cardiac arrest and after the successful cardiopulmonary resuscitation; ACMG PVS1, PM2, PP5

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