Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000024135 | SCV003275912 | uncertain significance | Combined malonic and methylmalonic acidemia | 2022-11-29 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 ACSF3 protein function. ClinVar contains an entry for this variant (Variation ID: 31139). This missense change has been observed in individual(s) with combined malonic and methylmalonic aciduria (PMID: 21841779). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 358 of the ACSF3 protein (p.Thr358Ile). |
OMIM | RCV000024135 | SCV000045426 | pathogenic | Combined malonic and methylmalonic acidemia | 2011-08-14 | no assertion criteria provided | literature only |