ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2441A>G (p.Lys814Arg)

dbSNP: rs1566237785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709349 SCV000838927 uncertain significance Retinoblastoma 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458329 SCV002736741 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-05 criteria provided, single submitter clinical testing The p.K814R variant (also known as c.2441A>G), located in coding exon 23 of the RB1 gene, results from an A to G substitution at nucleotide position 2441. The lysine at codon 814 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly 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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