ClinVar Miner

Submissions for variant NC_000023.10:g.(?_135292010)_(135292184_?)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 RCV002035796 SCV002292414 likely pathogenic X-linked myopathy with postural muscle atrophy 2021-12-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7 of the FHL1 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. 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. Studies have shown that a similar copy number variant alters FHL1 gene expression (external communication). This variant has not been reported in the literature in individuals affected with FHL1-related conditions.

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