ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)

dbSNP: rs45482795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254034 SCV000305201 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001069687 SCV001234874 pathogenic Tuberous sclerosis 2 2023-04-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 49529). This missense change has been observed in individual(s) with clinical features of tuberous sclerosis (PMID: 21520333; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 1208 of the TSC2 protein (p.Trp1208Gly).
Genome-Nilou Lab RCV001069687 SCV002039776 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042789 SCV000066585 not provided Tuberous sclerosis syndrome no assertion provided curation

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