ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.78_83dup (p.Pro28_Pro29dup)

dbSNP: rs1555279223
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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 RCV000632928 SCV000754135 uncertain significance Retinoblastoma 2022-07-14 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 527901). This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.78_83dup, results in the insertion of 2 amino acid(s) of the RB1 protein (p.Pro28_Pro29dup), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV002413811 SCV002673046 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-27 criteria provided, single submitter clinical testing The c.78_83dupGCCCCC variant (also known as p.P28_P29dup), located in coding exon 1 of the RB1 gene, results from an in-frame duplication of GCCCCC at nucleotide positions 78 to 83. This results in the duplication of 2 extra residues (PP) between codons 28 and 29. This amino acid region 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.

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