ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1025C>T (p.Thr342Ile)

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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 RCV002937540 SCV003258625 uncertain significance Retinoblastoma 2022-08-26 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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 342 of the RB1 protein (p.Thr342Ile).
Ambry Genetics RCV003167948 SCV003913084 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-07 criteria provided, single submitter clinical testing The p.T342I variant (also known as c.1025C>T), located in coding exon 10 of the RB1 gene, results from a C to T substitution at nucleotide position 1025. The threonine at codon 342 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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