ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108243943)_(108249112_?)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 RCV001032424 SCV001195731 likely pathogenic Ataxia-telangiectasia syndrome 2019-04-10 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 6-59 of the ATM gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with a ATM-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the p.Leu950 amino acid residue in ATM. Other variant(s) that disrupt this residue (p.Leu950Arg) have been determined to be pathogenic (PMID: 10873394, 20678261, 12552559, 21792198). 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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