ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.-149G>T

gnomAD frequency: 0.00001  dbSNP: rs1014776340
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292913 SCV001481609 uncertain significance Retinoblastoma 2020-08-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV002256730 SCV002530793 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-05 criteria provided, single submitter curation
GeneDx RCV002462902 SCV002757453 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing No data available from control populations to assess the frequency of this variant; Published functional studies demonstrate altered UTR transcript structure (Kutchko et al., 2015); This variant is associated with the following publications: (PMID: 20808897, 27569544, 18503160, 25999316)
Labcorp Genetics (formerly Invitae), Labcorp RCV001292913 SCV003493334 likely benign Retinoblastoma 2025-01-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003120538 SCV003800724 uncertain significance not specified 2023-01-11 criteria provided, single submitter clinical testing Variant summary: RB1 c.-149G>T is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 1.3e-05 in 150942 control chromosomes (gnomAD v3.1.2). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.-149G>T has been reported in the literature in an individual affected with Retinoblastoma (Macias_2008). This report does not provide unequivocal conclusions about association of the variant with Retinoblastoma. Experimental evidence demonstrated the variant significantly alters the UTR transcript structure (Kutchko_2015), however, does not allow convincing conclusions about the variant effect. Three ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Baylor Genetics RCV003462853 SCV004208510 uncertain significance Malignant tumor of urinary bladder 2024-02-14 criteria provided, single submitter clinical testing

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