ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.377_379+24del

dbSNP: rs2148373814
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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 RCV001379664 SCV001577504 likely pathogenic X-linked myopathy with postural muscle atrophy 2020-03-25 criteria provided, single submitter clinical testing 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. Loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). This variant has not been reported in the literature in individuals with FHL1-related conditions. This variant results in the deletion of part of exon 4 (c.329_331+24del) of the FHL1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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