Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001336451 | SCV001529838 | uncertain significance | COG1 congenital disorder of glycosylation | 2018-06-15 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001336451 | SCV003293512 | uncertain significance | COG1 congenital disorder of glycosylation | 2023-07-07 | criteria provided, single submitter | clinical testing | 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) performed at Invitae indicates that this missense variant is not expected to disrupt COG1 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. ClinVar contains an entry for this variant (Variation ID: 1033906). This variant has not been reported in the literature in individuals affected with COG1-related conditions. This variant is present in population databases (rs139676777, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 661 of the COG1 protein (p.Ile661Ser). |
Ambry Genetics | RCV003346483 | SCV004052727 | uncertain significance | Inborn genetic diseases | 2023-08-04 | criteria provided, single submitter | clinical testing | The c.1982T>G (p.I661S) alteration is located in exon 7 (coding exon 7) of the COG1 gene. This alteration results from a T to G substitution at nucleotide position 1982, causing the isoleucine (I) at amino acid position 661 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |