Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045249 | SCV001209087 | pathogenic | Tuberous sclerosis 2 | 2020-07-31 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 30 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with tuberous sclerosis complex (PMID: 10942116, 11112665, 23389244). This variant is also known as c.3628+1G>A, IVS29+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 49264). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic. |
Division of Genomic Medicine, |
RCV001045249 | SCV001424965 | pathogenic | Tuberous sclerosis 2 | 2020-07-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508402 | SCV001714531 | pathogenic | not provided | 2019-05-06 | criteria provided, single submitter | clinical testing | PVS1, PS4_moderate, PM2, PP4 |
Genome- |
RCV001045249 | SCV002040979 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001508402 | SCV002063465 | pathogenic | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042523 | SCV000066314 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Tuberous sclerosis database |
RCV000042523 | SCV000083494 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Tuberous sclerosis database |
RCV000055354 | SCV000083574 | not provided | Lymphangiomyomatosis | no assertion provided | curation |