ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.694C>T (p.Pro232Ser)

gnomAD frequency: 0.00001  dbSNP: rs1195873978
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545275 SCV000629341 benign Retinoblastoma 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025836 SCV001188100 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-02 criteria provided, single submitter clinical testing The p.P232S variant (also known as c.694C>T), located in coding exon 7 of the RB1 gene, results from a C to T substitution at nucleotide position 694. The proline at codon 232 is replaced by serine, 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.
Baylor Genetics RCV003470734 SCV004208518 uncertain significance Malignant tumor of urinary bladder 2023-08-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000545275 SCV004844622 uncertain significance Retinoblastoma 2024-02-05 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 232 of the RB1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with unilateral retinoblastoma (RB1-LOVD database: RB1_000978). This variant has been identified in 1/31338 chromosomes 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.
GeneDx RCV004721416 SCV005328183 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23516486)

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