Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001043221 | SCV001206942 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 143 of the MCCC1 protein (p.Lys143Met). This variant is present in population databases (rs375326791, gnomAD 0.02%). 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: 841074). 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. |
Ambry Genetics | RCV002551529 | SCV003682785 | uncertain significance | Inborn genetic diseases | 2021-08-10 | criteria provided, single submitter | clinical testing | The c.428A>T (p.K143M) alteration is located in exon 5 (coding exon 5) of the MCCC1 gene. This alteration results from a A to T substitution at nucleotide position 428, causing the lysine (K) at amino acid position 143 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001043221 | SCV001456494 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2020-01-24 | no assertion criteria provided | clinical testing |