ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108213939)_(108236235_?)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 RCV001381793 SCV001580294 pathogenic Ataxia-telangiectasia syndrome 2022-08-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 57-63 of the ATM 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. A similar copy number variant has been observed in individual(s) with hereditary breast and ovarian cancer syndrome, astrocytoma, glioblastoma, and colon polyps (PMID: 26681312, 27581129). The region of the ATM gene that includes exon(s) 62-63 has been determined to be clinically significant (PMID: 9443866, 9792409, 25428789, 25614872, 26681312). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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