ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2021C>T (p.Thr674Ile)

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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 RCV004665133 SCV005157311 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-19 criteria provided, single submitter clinical testing The p.T674I variant (also known as c.2021C>T), located in coding exon 13 of the RAD50 gene, results from a C to T substitution at nucleotide position 2021. The threonine at codon 674 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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