ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs)

dbSNP: rs2091198449
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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 RCV001066007 SCV001231000 pathogenic Ataxia-telangiectasia syndrome 2024-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2953Ilefs*2) 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 variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 859815). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004030595 SCV004933670 pathogenic Familial cancer of breast 2024-02-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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