Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000210826 | SCV000799464 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2018-04-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001376620 | SCV001419057 | pathogenic | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | This variant, c.1038_1040del, results in the deletion of 1 amino acid(s) of the MUT protein (p.Leu347del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs765373403, gnomAD 0.006%). This variant has been observed in individual(s) with methylmalonic acidemia (PMID: 15643616, 15781192, 16281286, 26790480). This variant is also known as c.1036-1038delCTT, p.L346del. ClinVar contains an entry for this variant (Variation ID: 225184). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000210826 | SCV002790356 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Genomics, |
RCV000210826 | SCV000267121 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2013-05-05 | no assertion criteria provided | research | |
Natera, |
RCV001835726 | SCV002077383 | pathogenic | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | 2021-09-20 | no assertion criteria provided | clinical testing |