Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665776 | SCV000789948 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2017-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001376589 | SCV001234141 | pathogenic | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MUT protein function. ClinVar contains an entry for this variant (Variation ID: 550893). This missense change has been observed in individual(s) with methylmalonic aciduria (PMID: 15781192, 16281286, 17957493; Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 324 of the MUT protein (p.Ala324Thr). |
Fulgent Genetics, |
RCV000665776 | SCV002799616 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2022-05-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003411570 | SCV004113040 | pathogenic | MMUT-related condition | 2023-02-15 | criteria provided, single submitter | clinical testing | The MMUT c.970G>A variant is predicted to result in the amino acid substitution p.Ala324Thr. This variant has been reported along with a second MMUT variant in individuals with MMUT-associated methylmalonic acidemia (MMA) (Martinez et al. 2005. PubMed ID: 15781192; Worgan et al. 2006. PubMed ID: 16281286; Merinero et al. 2008. PubMed ID: 17957493; Chu et al. 2016. PubMed ID: 27233228; Han et al. 2019. PubMed ID: 31466887). This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-49421411-C-T). Based on the available evidence, this variant is interpreted as pathogenic. |
Natera, |
RCV001835905 | SCV002077387 | pathogenic | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | 2021-06-30 | no assertion criteria provided | clinical testing |