ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)

dbSNP: rs1555085172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669937 SCV000794738 likely pathogenic Ataxia-telangiectasia syndrome 2017-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669937 SCV000949866 pathogenic Ataxia-telangiectasia syndrome 2021-04-23 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 554323). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1009*) in the ATM gene. It is expected to result in an absent or disrupted protein product.

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