ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4509G>T (p.Gln1503His)

dbSNP: rs45517349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002250506 SCV002521610 likely pathogenic Tuberous sclerosis 2 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense varaint: Protein truncation variants are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.89; 3Cnet: 0.05). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with TSC2 related disorder (PMID: 17304050). A different missense change at the same codon (p.Gln1503Pro) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000012401). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Tuberous sclerosis database (TSC2) RCV000042758 SCV000066553 not provided Tuberous sclerosis syndrome no assertion provided curation

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