ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4031A>G (p.Glu1344Gly)

dbSNP: rs2090482288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226591 SCV001398912 uncertain significance Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing 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: 954178). 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 glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1344 of the TSC2 protein (p.Glu1344Gly).
Ambry Genetics RCV002356962 SCV002622372 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-16 criteria provided, single submitter clinical testing The p.E1344G variant (also known as c.4031A>G), located in coding exon 33 of the TSC2 gene, results from an A to G substitution at nucleotide position 4031. The glutamic acid at codon 1344 is replaced by glycine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002491716 SCV002775621 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-09-20 criteria provided, single submitter clinical testing

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