ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2554dup (p.Gln852fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003607557 SCV004551674 pathogenic Ataxia-telangiectasia syndrome 2023-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln852Profs*8) 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 premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 30287823). ClinVar contains an entry for this variant (Variation ID: 1801584). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Genotyping Development, RIKEN RCV003164619 SCV002758287 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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