ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1883C>G (p.Ala628Gly)

dbSNP: rs1329826610
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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 RCV002020641 SCV002299813 uncertain significance Retinoblastoma 2022-01-11 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 628 of the RB1 protein (p.Ala628Gly).
Ambry Genetics RCV002407298 SCV002721181 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-05 criteria provided, single submitter clinical testing The p.A628G variant (also known as c.1883C>G), located in coding exon 19 of the RB1 gene, results from a C to G substitution at nucleotide position 1883. The alanine at codon 628 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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