ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485559 SCV000565174 likely benign not specified 2016-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000589479 SCV000641764 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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

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