ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2377-2A>G (rs1057516553)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411480 SCV000485862 likely pathogenic Ataxia-telangiectasia syndrome 2016-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568118 SCV000660467 likely pathogenic Hereditary cancer-predisposing syndrome 2019-06-24 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV000568118 SCV000910309 likely pathogenic Hereditary cancer-predisposing syndrome 2018-10-16 criteria provided, single submitter clinical testing
Invitae RCV000411480 SCV001229353 likely pathogenic Ataxia-telangiectasia syndrome 2019-08-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 15 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with S zary syndrome (PMID: 27039262). ClinVar contains an entry for this variant (Variation ID: 370519). Donor and acceptor splice site variants 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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