ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2222G>A (p.Arg741His)

gnomAD frequency: 0.00002  dbSNP: rs764520289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704707 SCV000833666 likely benign Retinoblastoma 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014847 SCV001175610 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-25 criteria provided, single submitter clinical testing The p.R741H variant (also known as c.2222G>A), located in coding exon 22 of the RB1 gene, results from a G to A substitution at nucleotide position 2222. The arginine at codon 741 is replaced by histidine, an amino acid with highly 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.
Sema4, Sema4 RCV001014847 SCV002530825 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter curation

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