ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1069C>T (p.Pro357Ser)

gnomAD frequency: 0.00001  dbSNP: rs568421803
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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 RCV001867348 SCV002127810 uncertain significance Retinoblastoma 2021-07-17 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 disruptive. This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is present in population databases (rs568421803, ExAC 0.01%). This sequence change replaces proline with serine at codon 357 of the RB1 protein (p.Pro357Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
GeneDx RCV004591606 SCV005079145 uncertain significance not provided 2023-12-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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