ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8440del (p.Glu2814fs) (rs752526400)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695448 SCV000823947 pathogenic Ataxia-telangiectasia syndrome 2018-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2814Lysfs*43) in the ATM gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in combination with another ATM variant in an individual affected with ataxia-telangiectasia (PMID: 25614872). This variant is also known as c.8441delG in the literature. 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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