ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.352A>T (p.Thr118Ser)

gnomAD frequency: 0.00001  dbSNP: rs1429553692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059400 SCV001224024 uncertain significance Retinoblastoma 2022-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RB1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 854366). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 118 of the RB1 protein (p.Thr118Ser).
Ambry Genetics RCV002451247 SCV002614840 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-07 criteria provided, single submitter clinical testing The p.T118S variant (also known as c.352A>T), located in coding exon 3 of the RB1 gene, results from an A to T substitution at nucleotide position 352. The threonine at codon 118 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV002482041 SCV002802102 uncertain significance Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma 2022-05-18 criteria provided, single submitter clinical testing

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