ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1840-4A>G

dbSNP: rs1057523736
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427325 SCV000533149 likely benign not specified 2016-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001463300 SCV001667240 likely benign Tuberous sclerosis 2 2023-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001463300 SCV002041394 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002063530 SCV002496014 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-07-21 criteria provided, single submitter clinical testing TSC2 NM_000548.3 intron 17 c.1840-4A>G:This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:390347). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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