ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8418+681A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003606654 SCV004509491 uncertain significance Ataxia-telangiectasia syndrome 2023-12-08 criteria provided, single submitter clinical testing This sequence change falls in intron 57 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with ATM-related conditions (PMID: 30549301). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004573251 SCV005053017 uncertain significance Familial cancer of breast 2023-11-20 criteria provided, single submitter clinical testing

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