Submissions for variant NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile)

gnomAD frequency: 0.00002  dbSNP: rs373982157

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000563553	SCV000675724	uncertain significance	Hereditary cancer-predisposing syndrome	2024-10-04	criteria provided, single submitter	clinical testing	The p.V1353I variant (also known as c.4057G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4057. The valine at codon 1353 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000983892	SCV001131939	benign	Tuberous sclerosis 2	2024-12-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000983892	SCV002039816	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003392417	SCV004129853	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BS2
All of Us Research Program, National Institutes of Health	RCV004001165	SCV004814579	uncertain significance	Tuberous sclerosis syndrome	2023-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000983892	SCV005406272	likely benign	Tuberous sclerosis 2	2024-08-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.