ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002419895 SCV002719733 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-23 criteria provided, single submitter clinical testing The p.A68G variant (also known as c.203C>G), located in coding exon 2 of the TSC2 gene, results from a C to G substitution at nucleotide position 203. The alanine at codon 68 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003464544 SCV004205077 uncertain significance Isolated focal cortical dysplasia type II 2023-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003626781 SCV004433596 uncertain significance Tuberous sclerosis 2 2023-02-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 68 of the TSC2 protein (p.Ala68Gly). 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. 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: 1784866). 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).

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