ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2449G>C (p.Glu817Gln)

dbSNP: rs762271261
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351863 SCV001546367 uncertain significance Retinoblastoma 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 817 of the RB1 protein (p.Glu817Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs762271261, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with RB1-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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