Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171711 | SCV000050727 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Center For Human Genetics And Laboratory Diagnostics, |
RCV000522990 | SCV000616622 | uncertain significance | Long QT syndrome 12 | 2017-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001059988 | SCV001224644 | uncertain significance | Long QT syndrome | 2019-11-29 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SNTA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 191512). This variant is present in population databases (rs201421292, ExAC 0.001%). This sequence change replaces glutamine with histidine at codon 125 of the SNTA1 protein (p.Gln125His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. |
Illumina Laboratory Services, |
RCV000522990 | SCV001303918 | uncertain significance | Long QT syndrome 12 | 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. |
Gene |
RCV000171711 | SCV001996488 | uncertain significance | not provided | 2019-10-01 | criteria provided, single submitter | clinical testing | Identified in association with LQTS in published literature (Marschall et al., 2019); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported as a variant of uncertain significance in ClinVar (ClinVar Variant ID# 191512; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31737537) |