Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190045 | SCV000243719 | uncertain significance | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | This variant is denoted TSC2 c.5347G>A at the cDNA level, p.Glu1783Lys (E1783K) at the protein level, and results in the change of a Glutamic Acid to a Lysine (GAG>AAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. TSC2 Glu1783Lys was observed at an allele frequency of 0.001% (3/244926 alleles) in large population cohorts (Lek 2016). TSC2 Glu1783Lys is not located in a known functional domain. In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether TSC2 Glu1783Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
Invitae | RCV001084324 | SCV000285460 | benign | Tuberous sclerosis 2 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001084324 | SCV002040290 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345684 | SCV002646277 | likely benign | Hereditary cancer-predisposing syndrome | 2023-01-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
ARUP Laboratories, |
RCV000190045 | SCV004564378 | uncertain significance | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | The TSC2 c.5347G>A; p.Glu1783Lys variant (rs777166275), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 207763). This variant is observed in the general population with an overall allele frequency of 0.001% (4/280670 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.493). Due to limited information, the clinical significance of this variant is uncertain at this time. |