ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer)

dbSNP: rs1555069677
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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 RCV000559709 SCV000622236 pathogenic Ataxia-telangiectasia syndrome 2017-04-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in ATM are known to be pathogenic (PMID: 25614872, 23807571). This sequence change creates a premature translational stop signal at codon 380 (p.Tyr380*) of the ATM gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV004023629 SCV004931660 pathogenic Familial cancer of breast 2024-01-12 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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