ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5172dup (p.Asp1725fs)

dbSNP: rs2135893222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780656 SCV002024398 likely pathogenic Ataxia-telangiectasia syndrome 2021-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001780656 SCV003337851 pathogenic Ataxia-telangiectasia syndrome 2022-03-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1323951). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1725Argfs*24) 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).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001780656 SCV004809889 likely pathogenic Ataxia-telangiectasia syndrome 2024-04-04 criteria provided, single submitter clinical testing

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