ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1803C>G (p.Ser601Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003511548 SCV004307567 likely pathogenic Tuberous sclerosis 2 2023-05-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 601 of the TSC2 protein (p.Ser601Arg). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This missense change has been observed in individual(s) with tuberous sclerosis complex (PMID: 24271014; Invitae). This variant is not present in population databases (gnomAD no frequency).

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