Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670562 | SCV000795426 | uncertain significance | Tay-Sachs disease | 2017-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670562 | SCV001517777 | uncertain significance | Tay-Sachs disease | 2022-07-25 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 182 of the HEXA protein (p.Pro182Leu). This variant is present in population databases (rs148511084, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. ClinVar contains an entry for this variant (Variation ID: 554859). 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 C15"). 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. |
Gene |
RCV001756136 | SCV001996310 | uncertain significance | not provided | 2019-09-27 | criteria provided, single submitter | clinical testing | The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV000670562 | SCV002086296 | uncertain significance | Tay-Sachs disease | 2018-05-01 | no assertion criteria provided | clinical testing |