ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys)

dbSNP: rs45517144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202762 SCV000257717 uncertain significance Tuberous sclerosis 2 2015-07-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466895 SCV004206837 uncertain significance Isolated focal cortical dysplasia type II 2023-09-23 criteria provided, single submitter clinical testing
Invitae RCV000202762 SCV004284418 uncertain significance Tuberous sclerosis 2 2024-01-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 335 of the TSC2 protein (p.Ser335Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 49653). 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 not expected to disrupt TSC2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC2) RCV000042915 SCV000066711 not provided Tuberous sclerosis syndrome no assertion provided curation

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