Submissions for variant NM_052845.4(MMAB):c.367del (p.Asp123fs)

dbSNP: rs1387128853

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003120620	SCV003801230	pathogenic	Methylmalonic acidemia	2023-01-20	criteria provided, single submitter	clinical testing	Variant summary: MMAB c.367delG (p.Asp123ThrfsX18) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4.2e-06 in 237140 control chromosomes. c.367delG has been reported in the literature in at-least one individual affected with Methylmalonic Acidemia (PMID:34796408). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics	RCV001527448	SCV004193154	pathogenic	Methylmalonic aciduria, cblB type	2022-11-03	criteria provided, single submitter	clinical testing
Baumgartner lab, University Children's Hospital Zurich	RCV001527448	SCV001738458	pathogenic	Methylmalonic aciduria, cblB type	2021-06-01	no assertion criteria provided	clinical testing