ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2251-1G>C (rs876659710)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223310 SCV000276460 likely pathogenic Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000464660 SCV000546952 pathogenic Ataxia-telangiectasia syndrome 2017-04-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with an ATM-related disease. A different variant affecting this nucleotide (c.2251-1G>A) has been identified in a individual affected with ataxia-telangiectasia. It has been reported to disrupt splicing (PMID: 8808599, 9872980), indicating that this nucleotide may be crucial for normal RNA splicing. For these reasons, this variant has been classified as Pathogenic.

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