ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys)

gnomAD frequency: 0.00001  dbSNP: rs377259044
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543036 SCV000648370 likely benign Dilated cardiomyopathy 1DD 2023-10-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000543036 SCV001265839 uncertain significance Dilated cardiomyopathy 1DD 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002431662 SCV002731660 uncertain significance Cardiovascular phenotype 2020-03-25 criteria provided, single submitter clinical testing The p.Q822K variant (also known as c.2464C>A), located in coding exon 9 of the RBM20 gene, results from a C to A substitution at nucleotide position 2464. The glutamine at codon 822 is replaced by lysine, an amino acid with 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.

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.