ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.94G>A (p.Asp32Asn)

dbSNP: rs1593412219
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791727 SCV000930987 uncertain significance Retinoblastoma 2023-06-27 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: 639029). This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 32 of the RB1 protein (p.Asp32Asn).
CeGaT Center for Human Genetics Tuebingen RCV001090332 SCV001245820 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370065 SCV002688231 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-07 criteria provided, single submitter clinical testing The p.D32N variant (also known as c.94G>A), located in coding exon 1 of the RB1 gene, results from a G to A substitution at nucleotide position 94. The aspartic acid at codon 32 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is 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.
All of Us Research Program, National Institutes of Health RCV000791727 SCV004826686 uncertain significance Retinoblastoma 2023-09-17 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 32 of the RB1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RB1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.