ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.731T>C (p.Ile244Thr) (rs147754935)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533722 SCV000629343 benign Retinoblastoma 2020-12-03 criteria provided, single submitter clinical testing
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000533722 SCV000891026 uncertain significance Retinoblastoma 2016-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026275 SCV001188620 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-27 criteria provided, single submitter clinical testing The p.I244T variant (also known as c.731T>C), located in coding exon 8 of the RB1 gene, results from a T to C substitution at nucleotide position 731. The isoleucine at codon 244 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.

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