ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)

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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 RCV002428833 SCV002744198 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-21 criteria provided, single submitter clinical testing The p.P892S variant (also known as c.2674C>T), located in coding exon 26 of the RB1 gene, results from a C to T substitution at nucleotide position 2674. The proline at codon 892 is replaced by serine, 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003230296 SCV003928049 uncertain significance Retinoblastoma 2023-05-16 criteria provided, single submitter clinical testing The RB1 c.2674C>T (p.Pro892Ser) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in the literature in individuals with retinoblastoma. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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