ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3131+1G>A (rs45506401)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520072 SCV000617351 pathogenic not provided 2016-01-18 criteria provided, single submitter clinical testing The c.3131+1 G>A splice site variant in the TSC2 gene has been previously reported in association with tuberous sclerosis (Ali et al., 2005; Kwiatkowski et al., 2015; TSC2 LOVD) and is consistent with the diagnosis in this individual. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This pathogenic variant destroys the canonical splice donor site in intron 27, and is expected to cause abnormal gene splicing. Additionally, other canonical splicing variants in intron 27 have been reported in the Human Gene Mutation Database in association with tuberous sclerosis (Stenson et al., 2014).
Tuberous sclerosis database (TSC2) RCV000042503 SCV000066294 not provided Tuberous sclerosis syndrome no assertion provided curation

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