Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000798694 | SCV000938321 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2022-05-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 212 of the MCCC1 protein (p.Gly212Ala). This variant is not present in population databases (gnomAD no frequency). 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: 644715). 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. 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 | RCV000798694 | SCV001523031 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2019-09-05 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Natera, |
RCV000798694 | SCV002079113 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2021-09-08 | no assertion criteria provided | clinical testing |