Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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This variant was found in one sporadic case of Tuberous Sclerosis in a Japanese individual. Missense mutations are rarely causative for this disease, however.
Gene associated with disease, but NBLOSUM=-1, missense mutations are rarely causative
See Zhang H et al. 1999 (10570911), Yamamoto T et al. 2002 (12015165), unpublished research (below).
OR = 5.56, p = 0.07
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Yamamoto et al. claim that the variant is not causative due to the rarity of causative missense mutations in TSC1.
Zhang H, Nanba E, Yamamoto T, Ninomiya H, Ohno K, Mizuguchi M, Takeshita K.
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous
sclerosis complex. J Hum Genet. 1999;44(6):391-6. Erratum in: J Hum Genet
2000;45(4):269. PubMed PMID: 10570911.
In a screen for mutations in TSC1 and TSC2 in 38 Japanese individuals with Tuberous Sclerosis, this variant was found sporadically in a 32yo female with angiofibroma, white macules, subependymal nodules and seizures. It was not seen in 60 controls.
Yamamoto T, Pipo JR, Feng JH, Takeda H, Nanba E, Ninomiya H, Ohno K. Novel
TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
Brain Dev. 2002 Jun;24(4):227-30. PubMed PMID: 12015165.
In a screen for TSC1 and TSC2 mutations in 9 Japanese individuals with tuberous sclerosis, this variant was seen as a compound heterozygote (with TSC2 L345R)) in a 6yo female with neurological symptoms, dermatological lesions and brain radiological findings. The variant was not seen in 64 Japanese and 55 Caucasian controls. This variant is reported as not causative due to the dearth of missense mutations in TSC1 causing tuberous sclerosis.
GS18956 - var-GS18956-1100-36-ASM
het C @ chr9:134762748