ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.269G>T (p.Gly90Val)

gnomAD frequency: 0.00001  dbSNP: rs554727080
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559096 SCV000629319 benign Retinoblastoma 2023-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763897 SCV000894833 uncertain significance Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438313 SCV002745369 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-25 criteria provided, single submitter clinical testing The p.G90V variant (also known as c.269G>T), located in coding exon 3 of the RB1 gene, results from a G to T substitution at nucleotide position 269. The glycine at codon 90 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is poorly 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.
Baylor Genetics RCV003470733 SCV004208535 uncertain significance Malignant tumor of urinary bladder 2023-06-30 criteria provided, single submitter clinical testing

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