ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1462G>A (p.Ala488Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002396759 SCV002697182 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-20 criteria provided, single submitter clinical testing The p.A488T variant (also known as c.1462G>A), located in coding exon 16 of the RB1 gene, results from a G to A substitution at nucleotide position 1462. The alanine at codon 488 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493944 SCV004242592 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007322 SCV004817974 uncertain significance Retinoblastoma 2023-03-04 criteria provided, single submitter clinical testing

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