ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.45_50dup (p.Ala17_Ala18dup)

dbSNP: rs1173330253
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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 RCV001058154 SCV001222702 uncertain significance Retinoblastoma 2024-01-28 criteria provided, single submitter clinical testing This variant, c.45_50dup, results in the insertion of 2 amino acid(s) of the RB1 protein (p.Ala17_Ala18dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with RB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 853363). 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.
Ambry Genetics RCV003160471 SCV003913088 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-13 criteria provided, single submitter clinical testing The c.45_50dupTGCCGC variant (also known as p.A17_A18dup), located in coding exon 1 of the RB1 gene, results from an in-frame duplication of TGCCGC at nucleotide positions 45 to 50. This results in the duplication of 2 extra residues (AA) between codons 17 and 18. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV001058154 SCV004846294 uncertain significance Retinoblastoma 2023-07-10 criteria provided, single submitter clinical testing This variant causes an in-frame duplication of amino acids 17 and 18 in the RB1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RB1-related disorders in the literature. This variant has been identified in 1/31200 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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