Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000675042 | SCV000800473 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2018-06-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855618 | SCV002242569 | pathogenic | not provided | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the MUT gene. It does not directly change the encoded amino acid sequence of the MUT protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has been observed in individuals with methylmalonic aciduria (PMID: 7602808, 16490061, 17075691). This variant is also known as IVS2+5G>A. ClinVar contains an entry for this variant (Variation ID: 558731). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |