ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)

dbSNP: rs769338089
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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 RCV001936550 SCV002197754 pathogenic Ataxia-telangiectasia syndrome 2023-07-18 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: 1428919). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32427313). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu688*) 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).
Baylor Genetics RCV003464251 SCV004216210 likely pathogenic Familial cancer of breast 2021-09-22 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003464251 SCV004931709 pathogenic Familial cancer of breast 2024-01-17 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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