ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1505C>T (p.Thr502Ile) (rs752334972)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541847 SCV000629286 uncertain significance Retinoblastoma 2017-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr502Ile) in the RB1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752334972, ExAC 0.01%). This variant has been reported in an individual with breast cancer (PMID: 28202063). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on RB1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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