ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.380-2A>G

dbSNP: rs2148375467
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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 RCV002042415 SCV002295362 likely pathogenic X-linked myopathy with postural muscle atrophy 2023-01-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1499755). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This sequence change affects an acceptor splice site in intron 4 of the FHL1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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).
Dr. Peter K. Rogan Lab, Western University RCV005925563 SCV006988764 not provided Nonpapillary renal cell carcinoma no classification provided in vitro

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