ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3401G>A (p.Gly1134Asp)

gnomAD frequency: 0.00001  dbSNP: rs766223343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694273 SCV000822709 benign Tuberous sclerosis 2 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020211 SCV001181661 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-19 criteria provided, single submitter clinical testing The p.G1134D variant (also known as c.3401G>A), located in coding exon 29 of the TSC2 gene, results from a G to A substitution at nucleotide position 3401. The glycine at codon 1134 is replaced by aspartic acid, an amino acid with similar properties. 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 RCV000694273 SCV002040769 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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