ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1163_1168dup (p.Ile388_Leu389dup)

dbSNP: rs1375214454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315873 SCV001506467 uncertain significance Retinoblastoma 2023-09-30 criteria provided, single submitter clinical testing This variant, c.1163_1168dup, results in the insertion of 2 amino acid(s) of the RB1 protein (p.Ile388_Leu389dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 1016810). 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 RCV004656513 SCV005160491 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-15 criteria provided, single submitter clinical testing The c.1163_1168dupTTTTAA variant (also known as p.I388_L389dup), located in coding exon 12 of the RB1 gene, results from an in-frame duplication of TTTTAA at nucleotide positions 1163 to 1168. This results in the duplication of 2 extra residues (IL) between codons 388 and 389. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.

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