ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3955_3958dup (p.Asp1320delinsValTer)

dbSNP: rs1591646379
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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 RCV000808757 SCV000948875 pathogenic Ataxia-telangiectasia syndrome 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATM-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 653063). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1320Valfs*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).
Fulgent Genetics, Fulgent Genetics RCV005049703 SCV005681275 pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-02-29 criteria provided, single submitter clinical testing

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