ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.812C>T (p.Thr271Ile)

dbSNP: rs1191072088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045195 SCV001209033 uncertain significance Retinoblastoma 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 271 of the RB1 protein (p.Thr271Ile). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 842728). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RB1 protein function with a negative predictive value of 80%. 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 RCV002416366 SCV002678951 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-20 criteria provided, single submitter clinical testing The p.T271I variant (also known as c.812C>T), located in coding exon 8 of the RB1 gene, results from a C to T substitution at nucleotide position 812. The threonine at codon 271 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Baylor Genetics RCV004570148 SCV005054146 uncertain significance Malignant tumor of urinary bladder 2023-12-30 criteria provided, single submitter clinical testing

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