ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1231C>A (p.Pro411Thr)

dbSNP: rs2138136242
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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 RCV001903325 SCV002162273 uncertain significance Retinoblastoma 2022-10-13 criteria provided, single submitter clinical testing 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 proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 411 of the RB1 protein (p.Pro411Thr). ClinVar contains an entry for this variant (Variation ID: 1397086). 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.

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