ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1635+5G>C

dbSNP: rs1580994525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012387 SCV001172827 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-13 criteria provided, single submitter clinical testing The c.1635+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 10 in the RAD50 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site. RNA studies have demonstrated this alteration results in an in frame exon skipping event; however the significance remains uncertain (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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