ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.548C>T (p.Thr183Ile)

dbSNP: rs1952522583
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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 RCV001343521 SCV001537509 uncertain significance Retinoblastoma 2022-05-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1039953). This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 183 of the RB1 protein (p.Thr183Ile). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003169651 SCV003913090 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-07 criteria provided, single submitter clinical testing The p.T183I variant (also known as c.548C>T), located in coding exon 6 of the RB1 gene, results from a C to T substitution at nucleotide position 548. The threonine at codon 183 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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