ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.123A>T (p.Gly41=)

gnomAD frequency: 0.00001  dbSNP: rs754054728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195527 SCV000254875 likely benign Hereditary cancer-predisposing syndrome 2023-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000195527 SCV000671857 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-05 criteria provided, single submitter clinical testing The c.123A>T variant (also known as p.G41G), located in coding exon 1 of the RAD50 gene, results from an A to T substitution at nucleotide position 123. This nucleotide substitution does not change the glycine at codon 41. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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