ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1236-1G>A

dbSNP: rs1408719214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672765 SCV000797903 likely pathogenic Ataxia-telangiectasia syndrome 2018-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672765 SCV002233073 pathogenic Ataxia-telangiectasia syndrome 2022-11-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 of the ATM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Studies have shown that disruption of this splice site alters ATM gene expression (PMID: 14695534). ClinVar contains an entry for this variant (Variation ID: 556721). Disruption of this splice site has been observed in individual(s) with prostate cancer (PMID: 32853339). This variant is not present in population databases (gnomAD no frequency).
Myriad Genetics, Inc. RCV004788102 SCV005402862 likely pathogenic Familial cancer of breast 2024-09-18 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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