ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.11A>G (p.Lys4Arg)

gnomAD frequency: 0.00001  dbSNP: rs1371181708
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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 RCV001057690 SCV001222194 uncertain significance Retinoblastoma 2020-06-10 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 4 of the RB1 protein (p.Lys4Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with RB1-related conditions.

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