ClinVar Miner

Submissions for variant NC_000013.11:g.48303678G>A

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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 RCV003869540 SCV004672023 uncertain significance Retinoblastoma 2024-01-28 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the RB1 gene. It does not change the encoded amino acid sequence of the RB1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with retinoblastoma (PMID: 30636860, 32218800, 33493472). This variant is also known as g.1825G>A . Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV003869540 SCV005046383 uncertain significance 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:PM2
PreventionGenetics, part of Exact Sciences RCV004750948 SCV005365523 uncertain significance RB1-related disorder 2024-08-12 no assertion criteria provided clinical testing The RB1 c.-235G>A variant is located in the 5' untranslated region. This variant was reported in individuals with retinoblastoma (Rojanaporn et al. 2018. PubMed ID: 30636860 - variant described as g.1825G>A; Chai et al. 2021. PubMed ID: 33493472). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/3009389/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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