Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001239983 | SCV001412897 | uncertain significance | Neurodegeneration with brain iron accumulation 6 | 2023-12-11 | 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 441 of the COASY protein (p.Thr441Met). This variant is present in population databases (rs767660167, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with COASY-related conditions. ClinVar contains an entry for this variant (Variation ID: 965514). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on COASY protein function. 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 | RCV004034633 | SCV004926633 | uncertain significance | not specified | 2024-01-22 | criteria provided, single submitter | clinical testing | The c.1409C>T (p.T470M) alteration is located in exon 8 (coding exon 7) of the COASY gene. This alteration results from a C to T substitution at nucleotide position 1409, causing the threonine (T) at amino acid position 470 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV005255668 | SCV005908590 | uncertain significance | not provided | 2024-10-09 | 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 |