ClinVar Miner

Submissions for variant NC_000023.10:g.(?_135288556)_(135293528_?)del

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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 RCV001384404 SCV001583879 pathogenic X-linked myopathy with postural muscle atrophy 2022-08-22 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the FHL1 gene has been identified. Loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of FHL1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 27409453). For these reasons, this variant has been classified as Pathogenic.

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