Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000203362 | SCV000792798 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2017-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000203362 | SCV001228047 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2019-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln18*) in the MUT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121918248, ExAC 0.003%). This variant has been observed in individual(s) with methylmalonic aciduria (PMID: 16281286, 1970180). ClinVar contains an entry for this variant (Variation ID: 1877). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000001954 | SCV000022112 | pathogenic | METHYLMALONIC ACIDURIA, mut(0) TYPE | 1987-03-01 | no assertion criteria provided | literature only | |
Gene |
RCV000203362 | SCV000258490 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2016-12-01 | no assertion criteria provided | literature only | mut(0) enzymatic subtype when homozygous |