ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr)

dbSNP: rs1349341137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547432 SCV000644486 benign Tuberous sclerosis 2 2023-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367881 SCV002623628 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-12 criteria provided, single submitter clinical testing The p.M1300T variant (also known as c.3899T>C), located in coding exon 32 of the TSC2 gene, results from a T to C substitution at nucleotide position 3899. The methionine at codon 1300 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV002483446 SCV002787775 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-11-24 criteria provided, single submitter clinical testing

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