Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189986 | SCV000243657 | uncertain significance | not provided | 2018-11-19 | criteria provided, single submitter | clinical testing | This variant is denoted TSC2 c.1661C>T at the cDNA level, p.Ser554Leu (S554L) at the protein level, and results in the change of a Serine to a Leucine (TCG>TTG). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. TSC2 Ser554Leu was observed at an allele frequency of 0.02% (5/30,782) in individuals of South Asian ancestry in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether TSC2 Ser554Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
Invitae | RCV001083566 | SCV000644270 | benign | Tuberous sclerosis 2 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001083566 | SCV002039567 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256101 | SCV002530984 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-01 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256101 | SCV002706534 | likely benign | Hereditary cancer-predisposing syndrome | 2022-04-22 | 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. |