ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1225+2T>C

gnomAD frequency: 0.00001  dbSNP: rs145058858
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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 RCV001010421 SCV001170620 likely pathogenic Hereditary cancer-predisposing syndrome 2017-12-04 criteria provided, single submitter clinical testing The c.1225+2T>C intronic variant results from a T to C substitution two nucleotides after coding exon 10 in the MRE11A gene. This nucleotide position is highly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice donor site, but is predicted to weaken (but not abolish) the efficiency of the native splice donor site by ESEfinder; 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.
Revvity Omics, Revvity RCV001784556 SCV002017547 pathogenic Ataxia-telangiectasia-like disorder 1 2019-05-16 criteria provided, single submitter clinical testing

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