ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2992G>A (p.Ala998Thr)

dbSNP: rs1440361406
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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 RCV001968435 SCV002239933 uncertain significance Tuberous sclerosis 2 2023-08-17 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1462357). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 998 of the TSC2 protein (p.Ala998Thr). 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.
All of Us Research Program, National Institutes of Health RCV004010995 SCV004829977 uncertain significance Tuberous sclerosis syndrome 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004686709 SCV005181126 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-14 criteria provided, single submitter clinical testing The p.A998T variant (also known as c.2992G>A), located in coding exon 26 of the TSC2 gene, results from a G to A substitution at nucleotide position 2992. The alanine at codon 998 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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