ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) (rs36013132)

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
GeneDx RCV000589479 SCV000565174 benign not provided 2020-05-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12471062, 23707710, 15308131)
Invitae RCV000408901 SCV000641764 benign Vitamin B12-responsive methylmalonic acidemia type cblB 2020-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589479 SCV000699781 benign not provided 2016-12-27 criteria provided, single submitter clinical testing Variant summary: The MMAB c.56_57delinsAA (p.Arg19delinsGln) variant is an in-frame delins variant in non-repetitive region which leads to a conservative change from Arg to Gln. The genomic variants 12:110011229 G / T and 12:110011230 C / T when combined give the variant of interest. These genomic variants have allele frequency of 0.2904 (29212/100576 chromosomes) and 0.2902 (29170/100504 chromosomes) respectively in ExAC. In African sub-cohort, these changes have the exactly the same allele frequency 0.433 (3570/8244 chromosomes with 701 homozygotes), strongly supporting that these changes are in same allele resulting into the c.56_57delinsAA variant. A published study also found this variants allele frequency at 36% (Dobson_2002). These data prove that this delins variant is a common benign polymorphism. It was also found in patients who already had biallelic pathogenic variants (Dobson_2002, Yang_2004). Taken together, this variant is classified as Benign.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000408901 SCV000485048 likely benign Vitamin B12-responsive methylmalonic acidemia type cblB 2016-12-21 no assertion criteria provided literature only

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.