Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000810735 | SCV000950967 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2018-08-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with MCCC1-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 117 of the MCCC1 protein (p.Ala117Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. |
| Revvity Omics, |
RCV000810735 | SCV003810809 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2022-04-13 | criteria provided, single submitter | clinical testing |