Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000464888 | SCV000515654 | likely benign | not provided | 2019-11-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327, 26691941) |
Invitae | RCV001086928 | SCV000544347 | likely benign | Tuberous sclerosis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561143 | SCV000675490 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-19 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000122208 | SCV001339170 | uncertain significance | not specified | 2020-03-26 | criteria provided, single submitter | clinical testing | Variant summary: TSC2 c.1820C>T (p.Ala607Val) results in a non-conservative amino acid change located in the Tuberin-type domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 250358 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in TSC2 causing Tuberous Sclerosis Complex (4e-05 vs 6.9e-05), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1820C>T in individuals affected with Tuberous Sclerosis Complex and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, two classify as likely benign while two classify as VUS. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Genome- |
RCV001086928 | SCV002039579 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000561143 | SCV002531006 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-19 | criteria provided, single submitter | curation | |
ITMI | RCV000122208 | SCV000086429 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |