Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000530709 | SCV000656951 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 44 of the MCCC1 protein (p.Ala44Phe). This variant is present in population databases (no rsID available, gnomAD 4%). 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: 476393). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 | RCV000530709 | SCV001523028 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2019-11-22 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ce |
RCV002275089 | SCV002563800 | uncertain significance | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002526734 | SCV003562477 | uncertain significance | Inborn genetic diseases | 2021-07-28 | criteria provided, single submitter | clinical testing | The c.130_131delGCinsTT (p.A44F) alteration, located in exon 2 (coding exon 2) of the MCCC1 gene, consists of an in-frame substitution of 2 nucleotides from position 130 to 131, causing the alanine (A) at amino acid position 44 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |