ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3577-1G>A

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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 RCV002455041 SCV002615642 likely pathogenic Hereditary cancer-predisposing syndrome 2016-12-22 criteria provided, single submitter clinical testing The c.3577-1G>A intronic variant results from a G to A substitution one nucleotide upstream from coding exon 24 of the ATM gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.
Laboratory for Genotyping Development, RIKEN RCV003164534 SCV002758091 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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