ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)

dbSNP: rs1565416901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698372 SCV000827032 pathogenic Ataxia-telangiectasia syndrome 2022-06-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 575999). 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.Glu874*) 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). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465603 SCV004210278 likely pathogenic Familial cancer of breast 2023-06-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003465603 SCV004933882 pathogenic Familial cancer of breast 2024-01-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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