ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.757-1G>C

dbSNP: rs1554098156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535603 SCV000628321 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 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). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 457488). Studies have shown that disruption of this splice site results in skipping of 6, but is expected to preserve the integrity of the reading-frame (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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