ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1961T>A (p.Val654Glu)

dbSNP: rs769113950
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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 RCV001257131 SCV002223076 uncertain significance Retinoblastoma 2021-02-27 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with bilateral retinoblastomas (PMID: 7795591). ClinVar contains an entry for this variant (Variation ID: 978459). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glutamic acid at codon 654 of the RB1 protein (p.Val654Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001257131 SCV001432968 likely pathogenic Retinoblastoma 2019-05-09 no assertion criteria provided clinical testing

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