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: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559096 SCV000629319 benign Retinoblastoma 2024-04-23 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 benign Hereditary cancer-predisposing syndrome 2024-04-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV003470733 SCV004208535 uncertain significance Malignant tumor of urinary bladder 2023-06-30 criteria provided, single submitter clinical testing
GeneDx RCV004772957 SCV005383213 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23516486)

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