Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000794663 | SCV000934084 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2023-01-15 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 641426). This missense change has been observed in individual(s) with clinical features of 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 31901042). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 435 of the MCCC1 protein (p.Ala435Val). |
Natera, |
RCV000794663 | SCV002079099 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2020-12-23 | no assertion criteria provided | clinical testing |