ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)

dbSNP: rs2079998938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201897 SCV001372988 pathogenic Ataxia-telangiectasia syndrome 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys397Argfs*9) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 933642). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321805 SCV004027148 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing

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