ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2299A>G (p.Asn767Asp)

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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 RCV003177005 SCV003854428 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-28 criteria provided, single submitter clinical testing The p.N767D variant (also known as c.2299A>G), located in coding exon 22 of the RB1 gene, results from an A to G substitution at nucleotide position 2299. The asparagine at codon 767 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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 RCV004009639 SCV004829771 uncertain significance Retinoblastoma 2023-08-15 criteria provided, single submitter clinical testing

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