ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2346A>G (p.Ile782Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004012109 SCV004827135 uncertain significance Retinoblastoma 2023-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004661827 SCV005160515 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-04 criteria provided, single submitter clinical testing The p.I782M variant (also known as c.2346A>G), located in coding exon 23 of the RB1 gene, results from an A to G substitution at nucleotide position 2346. The isoleucine at codon 782 is replaced by methionine, an amino acid with highly 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.

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