ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1988C>T (p.Thr663Ile)

gnomAD frequency: 0.00001  dbSNP: rs786201735
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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 RCV000164176 SCV000214794 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-17 criteria provided, single submitter clinical testing The p.T663I variant (also known as c.1988C>T), located in coding exon 13 of the RAD50 gene, results from a C to T substitution at nucleotide position 1988. The threonine at codon 663 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction 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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