ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2656G>A (p.Asp886Asn)

gnomAD frequency: 0.00001  dbSNP: rs1460190600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693027 SCV000820880 uncertain significance Retinoblastoma 2022-11-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RB1 protein function. ClinVar contains an entry for this variant (Variation ID: 571791). This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 886 of the RB1 protein (p.Asp886Asn).
Ambry Genetics RCV002424638 SCV002743781 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-02 criteria provided, single submitter clinical testing The p.D886N variant (also known as c.2656G>A), located in coding exon 25 of the RB1 gene, results from a G to A substitution at nucleotide position 2656. The aspartic acid at codon 886 is replaced by asparagine, 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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