Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002486067 | SCV002786525 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2022-03-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002486067 | SCV003502995 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2022-06-27 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 697 of the MCCC1 protein (p.Val697Met). This variant is present in population databases (rs776138490, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 991780). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Natera, |
RCV001280048 | SCV001467195 | uncertain significance | Methylcrotonyl-CoA carboxylase deficiency | 2020-10-29 | no assertion criteria provided | clinical testing |