ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.130-1G>A

dbSNP: rs876658784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700839 SCV000829613 likely pathogenic Hereditary cancer-predisposing syndrome 2023-08-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the RAD50 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with ovarian cancer (PMID: 33099839). ClinVar contains an entry for this variant (Variation ID: 577968). Studies have shown that disruption of this splice site results in skipping of exon 2, but is expected to preserve the integrity of the reading-frame (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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