ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.13A>C (p.Thr5Pro) (rs898303682)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632954 SCV000754163 uncertain significance Retinoblastoma 2017-12-21 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 5 of the RB1 protein (p.Thr5Pro). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and proline. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RB1-related disease. 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.

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