ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2705C>A (p.Ala902Glu)

gnomAD frequency: 0.00001  dbSNP: rs781740936
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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 RCV001930960 SCV002196772 uncertain significance Retinoblastoma 2021-11-29 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is present in population databases (rs781740936, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 902 of the RB1 protein (p.Ala902Glu).
Ambry Genetics RCV004043624 SCV005034530 likely benign Hereditary cancer-predisposing syndrome 2023-10-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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