Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002833989 | SCV003218107 | uncertain significance | Neurodegeneration with brain iron accumulation 6 | 2022-06-28 | criteria provided, single submitter | clinical testing | 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. 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. This variant has not been reported in the literature in individuals affected with COASY-related conditions. This variant is present in population databases (rs774485077, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 337 of the COASY protein (p.Arg337Cys). |
| Ambry Genetics | RCV004064945 | SCV004926628 | uncertain significance | not specified | 2023-12-21 | criteria provided, single submitter | clinical testing | The c.1096C>T (p.R366C) alteration is located in exon 5 (coding exon 4) of the COASY gene. This alteration results from a C to T substitution at nucleotide position 1096, causing the arginine (R) at amino acid position 366 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Gene |
RCV004725395 | SCV005334371 | uncertain significance | not provided | 2024-03-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |