ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7706del (p.Asp2569fs)

dbSNP: rs2086299809
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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 RCV001222811 SCV001394928 pathogenic Ataxia-telangiectasia syndrome 2019-08-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp2569Valfs*4) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions.

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