ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.298G>A (p.Ala100Thr)

gnomAD frequency: 0.00002  dbSNP: rs369314296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222030 SCV001394109 likely benign Tuberous sclerosis 2 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436859 SCV002751460 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-04 criteria provided, single submitter clinical testing The p.A100T variant (also known as c.298G>A), located in coding exon 3 of the TSC2 gene, results from a G to A substitution at nucleotide position 298. The alanine at codon 100 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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.

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