ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2999dup (p.Asn1000fs)

dbSNP: rs1057516250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410197 SCV000485357 likely pathogenic Ataxia-telangiectasia syndrome 2015-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410197 SCV003244611 pathogenic Ataxia-telangiectasia syndrome 2022-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1000Lysfs*10) 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: 370122). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003470323 SCV004210336 likely pathogenic Familial cancer of breast 2023-05-30 criteria provided, single submitter clinical testing

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