ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)

dbSNP: rs1603272191
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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 RCV001950939 SCV002234359 pathogenic X-linked myopathy with postural muscle atrophy 2022-03-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr176*) 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).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003741285 SCV004564543 likely pathogenic Familial hemophagocytic lymphohistiocytosis type 1 2023-10-18 criteria provided, single submitter clinical testing The FHL1 c.528C>G; p.Tyr176Ter variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1456031). This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic.

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