ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)

dbSNP: rs747057367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671246 SCV000796203 likely pathogenic Ataxia-telangiectasia syndrome 2017-12-05 criteria provided, single submitter clinical testing
Invitae RCV000671246 SCV004376069 pathogenic Ataxia-telangiectasia syndrome 2022-12-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555424). This variant is also known as c.6592_6593delCT. This premature translational stop signal has been observed in individual(s) with developmental disorders (PMID: 32005694). This variant is present in population databases (rs747057367, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser2199*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).
Laboratory for Genotyping Development, RIKEN RCV003163064 SCV002758400 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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