ClinVar Miner

Submissions for variant NC_000023.10:g.(?_100604873)_(100604964_?)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 RCV004578087 SCV005065555 pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. A similar copy number variant has been observed in individuals with agammaglobulinemia (PMID: 7711734, 9445504, 9545398; Invitae). This variant is a gross deletion of the genomic region encompassing exon(s) 19 of the BTK 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.

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