ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.548C>T (p.Thr183Ile)

dbSNP: rs1554097784
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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 RCV000570812 SCV000663748 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-29 criteria provided, single submitter clinical testing The p.T183I variant (also known as c.548C>T), located in coding exon 4 of the RAD50 gene, results from a C to T substitution at nucleotide position 548. The threonine at codon 183 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sema4, Sema4 RCV002257846 SCV002538525 uncertain significance Nijmegen breakage syndrome-like disorder 2021-07-09 criteria provided, single submitter curation

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