ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.58C>T (p.Pro20Ser)

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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 RCV002355688 SCV002649540 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-11 criteria provided, single submitter clinical testing The p.P20S variant (also known as c.58C>T), located in coding exon 1 of the RB1 gene, results from a C to T substitution at nucleotide position 58. The proline at codon 20 is replaced by serine, 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.
All of Us Research Program, National Institutes of Health RCV004005711 SCV004824144 uncertain significance Retinoblastoma 2023-03-04 criteria provided, single submitter clinical testing

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