ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) (rs786203309)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166556 SCV000217358 pathogenic Hereditary cancer-predisposing syndrome 2017-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000410598 SCV000486299 likely pathogenic Ataxia-telangiectasia syndrome 2016-05-06 criteria provided, single submitter clinical testing
Invitae RCV000410598 SCV000622360 pathogenic Ataxia-telangiectasia syndrome 2018-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu930*) 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). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with ataxia-telangiectasia (PMID: 18321536). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 186898). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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