ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.652T>G (p.Leu218Val) (rs1566191596)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693455 SCV000821326 uncertain significance Retinoblastoma 2018-02-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 218 of the RB1 protein (p.Leu218Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual affected with sporadic bilateral retinoblastoma (PMID: 20090211). An experimental RNA study using patient-derived leukocytes has shown that this sequence change, can produce two aberrant transcripts resulting in an out-of-frame skipping of part of exon 7 or an in-frame skipping of part of exon 7 and exon 8 (PMID: 21654082). 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.

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