Submissions for variant NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])

dbSNP: rs770077320

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000190395	SCV000789753	uncertain significance	Methylmalonic aciduria, cblB type	2017-02-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000190395	SCV001420754	uncertain significance	Methylmalonic aciduria, cblB type	2022-08-22	criteria provided, single submitter	clinical testing	This variant, c.37_54del, results in the deletion of 6 amino acid(s) of the MMAB protein (p.Gly13_Leu18del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770077320, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MMAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 208198). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Inserm U 954, Faculté de Médecine de Nancy	RCV000190395	SCV000243931	not provided	Methylmalonic aciduria, cblB type		no assertion provided	not provided
Natera, Inc.	RCV000190395	SCV002088706	uncertain significance	Methylmalonic aciduria, cblB type	2020-07-21	no assertion criteria provided	clinical testing