ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9070_*53del (p.Thr3024fs)

dbSNP: rs2137915972
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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 RCV001383966 SCV001583297 pathogenic Ataxia-telangiectasia syndrome 2022-09-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ATM protein in which other variant(s) (p.Arg3047*) have been determined to be pathogenic (PMID: 8755918, 10980530, 18560558, 19691550, 26628246). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change creates a premature translational stop signal (p.Thr3024_Val3056delinsLeuTyrPhe*) in the ATM gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the ATM protein.

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