ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5944C>T (p.Gln1982Ter) (rs1555111775)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545189 SCV000622628 pathogenic Ataxia-telangiectasia syndrome 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1982*) 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 to be homozygous in an individual affected with ataxia telangiectasia (PMID: 29664460). 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: 453605). 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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