ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)

dbSNP: rs1018140779
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411247 SCV000486300 likely pathogenic Ataxia-telangiectasia syndrome 2016-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411247 SCV001419068 pathogenic Ataxia-telangiectasia syndrome 2021-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2389*) 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 (ExAC no frequency). This variant has been observed in individual(s) with autosomal recessive ataxia-telangiectasia (PMID: 23807571). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 370874). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004567881 SCV005057042 pathogenic Familial cancer of breast 2024-01-27 criteria provided, single submitter clinical testing

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