ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.539+1G>T

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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 RCV002347187 SCV002646703 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-04 criteria provided, single submitter clinical testing The c.539+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 5 of the RB1 gene. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNAdecay; however, direct evidence is unavailable. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. The exact functional effect of the missing amino acids is unknown. 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 RCV004005693 SCV004839436 uncertain significance Retinoblastoma 2023-10-27 criteria provided, single submitter clinical testing

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