ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.98G>A (p.Gly33Asp)

dbSNP: rs1352220583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644123 SCV000765813 benign Tuberous sclerosis 2 2024-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386073 SCV002695838 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-04 criteria provided, single submitter clinical testing The p.G33D variant (also known as c.98G>A), located in coding exon 1 of the TSC2 gene, results from a G to A substitution at nucleotide position 98. The glycine at codon 33 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004003998 SCV004816917 uncertain significance Tuberous sclerosis syndrome 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces glycine with aspartic acid at codon 33 of the TSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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 1/251274 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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