Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001137161 | SCV001297071 | uncertain significance | Long QT syndrome 6 | 2018-01-12 | 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. |
Illumina Laboratory Services, |
RCV001139399 | SCV001299545 | uncertain significance | Atrial fibrillation, familial, 4 | 2018-01-12 | 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. |
Ambry Genetics | RCV002411643 | SCV002716924 | uncertain significance | Cardiovascular phenotype | 2020-03-24 | criteria provided, single submitter | clinical testing | The p.N6S variant (also known as c.17A>G), located in coding exon 1 of the KCNE2 gene, results from an A to G substitution at nucleotide position 17. The asparagine at codon 6 is replaced by serine, an amino acid with highly similar properties. This variant was identified in an asymptomatic first degree relative and absent in the proband with cardiomyopathy (Roberts JD et al. Circ Arrhythm Electrophysiol, 2017 Aug;10:). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002497548 | SCV002791412 | uncertain significance | Atrial fibrillation, familial, 4; Long QT syndrome 6 | 2021-07-02 | criteria provided, single submitter | clinical testing |