ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.354T>A (p.Thr118=) (rs951251256)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020579 SCV001182078 likely benign Hereditary cancer-predisposing syndrome 2017-12-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001069942 SCV001235142 uncertain significance Retinoblastoma 2019-11-19 criteria provided, single submitter clinical testing This sequence change affects codon 118 of the RB1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RB1-related conditions. 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. 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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