ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1678T>A (p.Ser560Thr)

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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 RCV002405981 SCV002710976 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-02 criteria provided, single submitter clinical testing The p.S560T variant (also known as c.1678T>A), located in coding exon 17 of the RB1 gene, results from a T to A substitution at nucleotide position 1678. The serine at codon 560 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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.
All of Us Research Program, National Institutes of Health RCV004007352 SCV004825108 uncertain significance Retinoblastoma 2023-08-15 criteria provided, single submitter clinical testing

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