ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg)

dbSNP: rs755559677
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795502 SCV000934967 uncertain significance Tuberous sclerosis 2 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1192 of the TSC2 protein (p.Gln1192Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 642107). 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. 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.
Ambry Genetics RCV002458428 SCV002613269 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-17 criteria provided, single submitter clinical testing The p.Q1192R variant (also known as c.3575A>G), located in coding exon 29 of the TSC2 gene, results from an A to G substitution at nucleotide position 3575. The glutamine at codon 1192 is replaced by arginine, an amino acid with highly 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 RCV003467349 SCV004206898 uncertain significance Isolated focal cortical dysplasia type II 2023-06-21 criteria provided, single submitter clinical testing

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