ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)

gnomAD frequency: 0.00001  dbSNP: rs757113497
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189881 SCV000243535 likely benign not specified 2013-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000467572 SCV000544562 likely benign Tuberous sclerosis 2 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314773 SCV000848785 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-23 criteria provided, single submitter clinical testing The p.T36A variant (also known as c.106A>G), located in coding exon 1 of the TSC2 gene, results from an A to G substitution at nucleotide position 106. The threonine at codon 36 is replaced by alanine, an amino acid with similar properties. This amino acid position is well 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.
Genome-Nilou Lab RCV000467572 SCV002041037 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000467572 SCV004031198 uncertain significance Tuberous sclerosis 2 2023-06-22 criteria provided, single submitter clinical testing The TSC2 c.106A>G (p.Thr36Ala) missense change has a maximum subpopulation frequency of 0.0058% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with tuberous sclerosis complex. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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