ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3733G>T (p.Glu1245Ter)

dbSNP: rs2082308153
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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 RCV001223353 SCV001395497 pathogenic Ataxia-telangiectasia syndrome 2020-05-15 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1245*) in the ATM gene. It is expected to result in an absent or disrupted protein product.

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