ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108119686)_(108120192_?)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 RCV004580092 SCV005062600 likely pathogenic Ataxia-telangiectasia syndrome 2019-10-26 criteria provided, single submitter clinical testing 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. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related disease. This variant is a gross deletion of the genomic region encompassing part of exon 9 and part of intron 9 (c.1092_1235+363del) of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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