ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6797_6798delinsC (p.Lys2266fs) (rs1555119364)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573379 SCV000672639 pathogenic Hereditary cancer-predisposing syndrome 2016-02-08 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV001247774 SCV001421217 pathogenic Ataxia-telangiectasia syndrome 2019-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2266Thrfs*44) 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 not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 485180). 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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