Submissions for variant NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)

gnomAD frequency: 0.00002  dbSNP: rs767770242

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189995	SCV000243667	likely benign	not provided	2020-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563688	SCV000675747	uncertain significance	Hereditary cancer-predisposing syndrome	2023-11-12	criteria provided, single submitter	clinical testing	The p.T746I variant (also known as c.2237C>T), located in coding exon 20 of the TSC2 gene, results from a C to T substitution at nucleotide position 2237. The threonine at codon 746 is replaced by isoleucine, 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	RCV001086435	SCV000765873	benign	Tuberous sclerosis 2	2024-01-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001086435	SCV002039629	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001086435	SCV003821616	uncertain significance	Tuberous sclerosis 2	2022-01-28	criteria provided, single submitter	clinical testing