ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1927-1G>T (rs1295485913)

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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 RCV000564266 SCV000666423 likely pathogenic Hereditary cancer-predisposing syndrome 2018-12-14 criteria provided, single submitter clinical testing The c.1927-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 17 of the MRE11A 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.
Counsyl RCV000662872 SCV000785764 likely pathogenic Ataxia-telangiectasia-like disorder 1 2017-11-29 criteria provided, single submitter clinical testing

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