ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3814+1G>C

dbSNP: rs397514902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114236 SCV003799711 likely pathogenic not provided 2022-07-06 criteria provided, single submitter clinical testing The TSC2 c.3814+1G>C variant (rs397514902), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 65032). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 31, which is likely to negatively impact gene function. Based on available information, this variant is considered to be likely pathogenic.
Tuberous sclerosis database (TSC2) RCV000055237 SCV000083456 not provided Tuberous sclerosis syndrome no assertion provided curation

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