ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.539C>T (p.Ser180Leu)

gnomAD frequency: 0.00001  dbSNP: rs367654488
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632972 SCV000754181 benign Retinoblastoma 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343228 SCV002651390 likely benign Hereditary cancer-predisposing syndrome 2019-10-21 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003411502 SCV004115425 uncertain significance RB1-related disorder 2023-01-20 criteria provided, single submitter clinical testing The RB1 c.539C>T variant is predicted to result in the amino acid substitution p.Ser180Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0086% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/13-48921999-C-T). In ClinVar, this variant is classified as likely benign and benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/527940/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV003392470 SCV004133122 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing RB1: BP4
All of Us Research Program, National Institutes of Health RCV000632972 SCV004844613 likely benign Retinoblastoma 2023-10-02 criteria provided, single submitter clinical testing
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV000632972 SCV005046389 likely benign Retinoblastoma 2024-05-20 criteria provided, single submitter clinical testing Case and Pedigree Information: BILATERAL CASES:0, UNILATERAL CASES:1, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:BP4, BP6

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