ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1684G>C (p.Ala562Pro)

dbSNP: rs2138145788
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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 RCV001371780 SCV001568359 uncertain significance Retinoblastoma 2020-10-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RB1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RB1 protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 562 of the RB1 protein (p.Ala562Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline.

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