ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg)

dbSNP: rs771561593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545351 SCV000644214 likely benign Tuberous sclerosis 2 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010318 SCV001170495 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-08 criteria provided, single submitter clinical testing The p.G402R variant (also known as c.1204G>A), located in coding exon 11 of the TSC2 gene, results from a G to A substitution at nucleotide position 1204. The glycine at codon 402 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Genome-Nilou Lab RCV000545351 SCV002041136 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999246 SCV004819240 uncertain significance Tuberous sclerosis syndrome 2024-05-09 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 402 of the TSC2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has been identified in 1/251108 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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