ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108213939)_(108225611_?)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 RCV001377249 SCV001574527 likely pathogenic Ataxia-telangiectasia syndrome 2022-09-20 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. This variant disrupts the p.Arg2832 amino acid residue in ATM. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9443866, 10873394, 18634022, 19431188). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 57-61 of the ATM gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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