ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.331A>C (p.Arg111=)

gnomAD frequency: 0.00004  dbSNP: rs752358589
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
Eurofins Ntd Llc (ga) RCV000292088 SCV000338433 uncertain significance not provided 2015-12-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137001 SCV001296889 uncertain significance Sitosterolemia 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000292088 SCV001665165 likely benign not provided 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321957 SCV002607276 likely benign Cardiovascular phenotype 2022-09-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.