Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478569 | SCV000566981 | pathogenic | not provided | 2015-06-25 | criteria provided, single submitter | clinical testing | The c.312delC deletion in the MUT gene causes a frameshift starting with codon Tryptophan 105,changes this amino acid to a Glycine residue and creates a premature Stop codon at position 75 of the newreading frame, denoted p.Trp105GlyfsX75. This deletion is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Although this variant hasnot been previously reported to our knowledge, it is expected to be pathogenic. |
Counsyl | RCV000668157 | SCV000792711 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2017-07-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000478569 | SCV001591364 | pathogenic | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp105Glyfs*75) in the MUT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with methylmalonic acidemia (PMID: 30041674, 32754920). ClinVar contains an entry for this variant (Variation ID: 419283). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000668157 | SCV002017612 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2020-03-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000668157 | SCV002810336 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2021-10-08 | criteria provided, single submitter | clinical testing |