Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187616 | SCV000241211 | uncertain significance | not provided | 2023-05-28 | criteria provided, single submitter | clinical testing | Reported in the heterozygous state in a patient with epilepsy, mild developmental delays and ADHD who also harbored a pathogenic variant in the SCN1A gene (de Lange et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32032478) |
Invitae | RCV000461893 | SCV000543668 | uncertain significance | Progressive myoclonic epilepsy | 2022-09-12 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 170 of the GOSR2 protein (p.Asn170Ser). This variant is present in population databases (rs150907052, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with GOSR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 205631). 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 tolerated. 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. |
Ce |
RCV000187616 | SCV002563419 | uncertain significance | not provided | 2020-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336496 | SCV002641924 | uncertain significance | Inborn genetic diseases | 2018-01-31 | criteria provided, single submitter | clinical testing | The p.N170S variant (also known as c.509A>G), located in coding exon 6 of the GOSR2 gene, results from an A to G substitution at nucleotide position 509. The asparagine at codon 170 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002485269 | SCV002791045 | uncertain significance | Progressive myoclonic epilepsy type 6 | 2022-02-24 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000187616 | SCV003815094 | uncertain significance | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000187616 | SCV001741875 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000187616 | SCV001968846 | uncertain significance | not provided | no assertion criteria provided | clinical testing |