ClinVar Miner

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

dbSNP: rs770077320
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Total submissions: 4
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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
Invitae 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

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