ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108114674)_(108225607_?)dup

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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 RCV000708129 SCV000837239 likely pathogenic Ataxia-telangiectasia syndrome 2018-04-06 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 6-61 of the ATM gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ATM-related disease. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). 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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