ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1969+1G>A

dbSNP: rs587782078
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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 RCV000130574 SCV000185446 likely pathogenic Hereditary cancer-predisposing syndrome 2018-11-16 criteria provided, single submitter clinical testing The c.1969+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 12 of the RAD50 gene. This nucleotide position is highly conserved on sequence alignment. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor 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.
Revvity Omics, Revvity Omics RCV001781471 SCV002019620 pathogenic Nijmegen breakage syndrome-like disorder 2019-04-24 criteria provided, single submitter clinical testing

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