ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5068+8C>T

gnomAD frequency: 0.00003  dbSNP: rs747827911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085726 SCV000556640 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597668 SCV000709151 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224293 SCV003920598 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-03-30 criteria provided, single submitter clinical testing TSC2 c.5068+8C>T: This variant has not been reported in the literature, but is present in 7/245274 individuals of various ethnicity in the Genome Aggregation Database. (http://gnomad.broadinstitute.org/rs747827911). This variant is present in ClinVar (Variation ID: 413725). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. 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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