ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2720C>A (p.Thr907Asn)

dbSNP: rs2138364355
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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 RCV003176986 SCV003854389 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-19 criteria provided, single submitter clinical testing The p.T907N variant (also known as c.2720C>A), located in coding exon 27 of the RB1 gene, results from a C to A substitution at nucleotide position 2720. The threonine at codon 907 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. 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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