ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.83C>T (p.Pro28Leu)

dbSNP: rs776175164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688608 SCV000816228 likely benign Retinoblastoma 2024-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440436 SCV002677743 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-08 criteria provided, single submitter clinical testing The p.P28L variant (also known as c.83C>T), located in coding exon 1 of the RB1 gene, results from a C to T substitution at nucleotide position 83. The proline at codon 28 is replaced by leucine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
GeneDx RCV003117490 SCV003798578 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23516486)
All of Us Research Program, National Institutes of Health RCV000688608 SCV004834483 uncertain significance Retinoblastoma 2024-01-11 criteria provided, single submitter clinical testing

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