ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108299704)_(108304862_?)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 RCV001032298 SCV001195605 likely pathogenic Ataxia-telangiectasia syndrome 2020-06-20 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon(s) 34-37 of the ATM gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant disrupts the p.Thr1743 amino acid residue in ATM. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9463314, 19147735, 19431188). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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