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

dbSNP: rs36013132

Total submissions: 4

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	Methylmalonic aciduria, cblB type	2024-02-01	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	Methylmalonic aciduria, cblB type	2016-12-21	no assertion criteria provided	literature only