ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.531CAG[1] (p.Ser180del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002346895 SCV002643266 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-31 criteria provided, single submitter clinical testing The c.534_536delCAG variant (also known as p.S180del) is located in coding exon 5 of the RB1 gene. This variant results from an in-frame CAG deletion at nucleotide positions 534 to 536. This results in the in-frame deletion of a serine at codon 180. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004005691 SCV004828501 uncertain significance Retinoblastoma 2023-09-04 criteria provided, single submitter clinical testing This variant causes the deletion of a serine at codon 180 in the RB1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RB1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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