ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)

dbSNP: rs2135265742
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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 RCV001919105 SCV002179131 pathogenic Ataxia-telangiectasia syndrome 2022-06-20 criteria provided, single submitter clinical testing 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.Tyr316*) 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 RCV003471044 SCV004212225 likely pathogenic Familial cancer of breast 2022-09-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003471044 SCV004930459 pathogenic Familial cancer of breast 2024-01-11 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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