ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)

dbSNP: rs45517217
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Total submissions: 2
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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 RCV002273946 SCV002559803 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), assumed de novo (PM6), multiple lines of computational evidence support a deleterious effect (PP3). Detected in the patient with clinically definitive tuberous sclerosis complex (PP4) and also reported as pathogenic/likely pathogenic in LOVD database (PP5).
Tuberous sclerosis database (TSC2) RCV000043386 SCV000067192 not provided Tuberous sclerosis syndrome no assertion provided curation

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