ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1229C>T (p.Thr410Ile)

dbSNP: rs876659018
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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 RCV001010444 SCV001170644 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-17 criteria provided, single submitter clinical testing The p.T410I variant (also known as c.1229C>T), located in coding exon 8 of the RAD50 gene, results from a C to T substitution at nucleotide position 1229. The threonine at codon 410 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well 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.

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