Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002738304 | SCV003568670 | likely benign | Inborn genetic diseases | 2021-11-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Labcorp Genetics |
RCV003111673 | SCV003786835 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine with tyrosine at codon 129 of the MCCC1 protein (p.Cys129Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs150783093, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Baylor Genetics | RCV003111673 | SCV003835015 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003111673 | SCV004236319 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2023-02-06 | criteria provided, single submitter | clinical testing |