ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6235_6236insAAG (p.Ser2078_Val2079insGlu)

dbSNP: rs1591789280
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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 RCV000814595 SCV000955008 uncertain significance Ataxia-telangiectasia syndrome 2021-08-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.6235_6236insAAG, results in the insertion of 1 amino acid(s) to the ATM protein (p.Ser2078_Val2079insGlu), but otherwise preserves the integrity of the reading frame.

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