ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.608G>A (p.Gly203Glu)

dbSNP: rs2138107541
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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 RCV001902349 SCV002136899 uncertain significance Retinoblastoma 2022-09-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 203 of the RB1 protein (p.Gly203Glu). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1363592). 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).
Ambry Genetics RCV002359306 SCV002657993 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-10 criteria provided, single submitter clinical testing The p.G203E variant (also known as c.608G>A) is located in coding exon 7 of the RB1 gene. The glycine at codon 203 is replaced by glutamic acid, an amino acid with similar properties. This change occurs in the first base pair of coding exon 7. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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