Total submissions: 9
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000659118 | SCV000291943 | uncertain significance | not provided | 2024-05-15 | 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 |
| Labcorp Genetics |
RCV000659118 | SCV000626022 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000659118 | SCV000705489 | uncertain significance | not provided | 2017-03-01 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV000659118 | SCV000780931 | uncertain significance | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001166178 | SCV000884035 | uncertain significance | Familial dysautonomia | 2020-04-09 | criteria provided, single submitter | clinical testing | The p.Arg1094Gly variant (rs146440397) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.2 percent in the European Non-Finnish population (identified on 215 out of 126,458 chromosomes) and has been reported to the ClinVar database (Variation ID: 242294). The arginine at position 1094 is highly conserved up to C. elegans considering 13 species (Alamut v2.11) and computational analyses of the effects of the p.Arg1094Gly variant on protein structure and function provide conflicting results (SIFT: tolerated, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Arg1094Gly variant with certainty. |
| Illumina Laboratory Services, |
RCV001166178 | SCV001328519 | uncertain significance | Familial dysautonomia | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Mayo Clinic Laboratories, |
RCV000659118 | SCV001716030 | uncertain significance | not provided | 2023-05-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004020903 | SCV002756039 | uncertain significance | not specified | 2022-04-20 | criteria provided, single submitter | clinical testing | The p.R1094G variant (also known as c.3280A>G), located in coding exon 29 of the IKBKAP gene, results from an A to G substitution at nucleotide position 3280. The arginine at codon 1094 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV001166178 | SCV001461187 | uncertain significance | Familial dysautonomia | 2020-01-17 | no assertion criteria provided | clinical testing |