ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.332-1G>A (rs747855862)

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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 RCV000217634 SCV000275414 likely pathogenic Hereditary cancer-predisposing syndrome 2018-10-19 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
GeneDx RCV000480467 SCV000567228 likely pathogenic not provided 2018-03-28 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.332-1G>A or IVS4-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 4 of the ATM gene. A splicing assay reportedly demonstrated that this variant, also defined as IVS6-1G>A using alternate numbering, results in the skipping of the adjacent exon (Laake 2000). This disruption would be predicted to lead to an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. ATM c.332-1G>A was observed in trans with another ATM variant in an individual with Ataxia-Telangiectasia (Laake 2000). Based on currently available evidence, we consider this variant to be likely pathogenic.

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