ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr)

gnomAD frequency: 0.00009  dbSNP: rs781981910
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214213 SCV000271515 uncertain significance not specified 2015-05-05 criteria provided, single submitter clinical testing The p.Ala222Thr variant in ATP6V1B1 has not been previously reported in individu als with hearing loss or in large population studies. Computational prediction t ools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ala222Thr variant is uncertain.
Illumina Laboratory Services, Illumina RCV001139487 SCV001299651 uncertain significance Renal tubular acidosis with progressive nerve deafness 2018-01-13 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.
Fulgent Genetics, Fulgent Genetics RCV001139487 SCV002789862 uncertain significance Renal tubular acidosis with progressive nerve deafness 2022-05-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001139487 SCV002079715 uncertain significance Renal tubular acidosis with progressive nerve deafness 2019-10-28 no assertion criteria provided clinical testing

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.