ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2114T>A (p.Met705Lys)

dbSNP: rs2138342236
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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 RCV001998738 SCV002275880 uncertain significance Retinoblastoma 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces methionine with lysine at codon 705 of the RB1 protein (p.Met705Lys). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and lysine. This variant is not present in population databases (ExAC no frequency). 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 has not been reported in the literature in individuals affected with RB1-related conditions.

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