ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.97G>A (p.Gly33Ser)

gnomAD frequency: 0.00001  dbSNP: rs370230541
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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 RCV000563255 SCV000675684 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-24 criteria provided, single submitter clinical testing The p.G33S variant (also known as c.97G>A), located in coding exon 1 of the TSC2 gene, results from a G to A substitution at nucleotide position 97. The glycine at codon 33 is replaced by serine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000644191 SCV000765881 benign Tuberous sclerosis 2 2023-09-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644191 SCV002040523 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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