ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly)

gnomAD frequency: 0.00001  dbSNP: rs767444397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047283 SCV001211228 benign Tuberous sclerosis 2 2023-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339238 SCV002635680 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-30 criteria provided, single submitter clinical testing The p.D1629G variant (also known as c.4886A>G), located in coding exon 37 of the TSC2 gene, results from an A to G substitution at nucleotide position 4886. The aspartic acid at codon 1629 is replaced by glycine, an amino acid with similar properties. This amino acid position is not 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.
Baylor Genetics RCV003462537 SCV004206878 uncertain significance Isolated focal cortical dysplasia type II 2023-07-21 criteria provided, single submitter clinical testing

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