ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1092_1235+363delinsCTT

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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 RCV003501254 SCV004261916 likely pathogenic Ataxia-telangiectasia syndrome 2024-01-05 criteria provided, single submitter clinical testing This variant results in the deletion of exon 9 (c.1092_1235+363delinsCTT) of the ATM gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals affected with ATM-related conditions. Studies have shown that this variant results in skipping of exon 9 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. 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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