Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174941 | SCV000226346 | uncertain significance | not provided | 2014-07-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001852133 | SCV002164629 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2022-03-28 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 567 of the MCCC1 protein (p.Thr567Met). This variant is present in population databases (rs762639338, gnomAD 0.003%). 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: 194552). 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |