ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.880G>A (p.Gly294Arg)

dbSNP: rs45517139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513623 SCV003443036 pathogenic Tuberous sclerosis 2 2022-01-17 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: 49402). This missense change has been observed in individual(s) with clinical features of tuberous sclerosis (PMID: 11208653, 32410215). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 294 of the TSC2 protein (p.Gly294Arg).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003333730 SCV004041810 pathogenic Tuberous sclerosis syndrome 2023-10-11 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042662 SCV000066457 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation

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