ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2759T>C (p.Met920Thr)

gnomAD frequency: 0.00004  dbSNP: rs148501460
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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 RCV001016519 SCV001177481 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-01 criteria provided, single submitter clinical testing The p.M920T variant (also known as c.2759T>C), located in coding exon 27 of the RB1 gene, results from a T to C substitution at nucleotide position 2759. The methionine at codon 920 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001233281 SCV001405868 likely benign Retinoblastoma 2023-06-27 criteria provided, single submitter clinical testing

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