ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.381T>C (p.Ser127=)

dbSNP: rs780321508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002018267 SCV002306926 uncertain significance Retinoblastoma 2021-03-12 criteria provided, single submitter clinical testing 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 is not likely to affect RNA splicing, 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. This variant is present in population databases (rs780321508, ExAC 0.002%). This sequence change affects codon 127 of the RB1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RB1 protein.
Breakthrough Genomics, Breakthrough Genomics RCV004694137 SCV005192143 uncertain significance not provided criteria provided, single submitter not provided

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