ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.843G>T (p.Glu281Asp)

dbSNP: rs2151088094
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV002274816 SCV002559798 likely pathogenic Tuberous sclerosis 2 2022-07-19 criteria provided, single submitter clinical testing According to ACMG GL 2015, this variant located in Hamartin binding domain (PM1), absent from controls (PM2), multiple lines of computational evidence support a deleterious effect (PP3). Also detected in the patient with clinically definitive tuberous sclerosis complex (PP4) and reported as pathogenic/likely pathogenic in LOVD database (PP5).

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