ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108163336)_(108170622_?)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 RCV003119179 SCV003790142 likely pathogenic Ataxia-telangiectasia syndrome 2021-07-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 30-34 of the ATM gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with ataxia-telangiectasia (PMID: 16941484). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as deletion of exons 32-36. 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.

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