Submissions for variant NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)

gnomAD frequency: 0.00002  dbSNP: rs202241429

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164473	SCV000215118	uncertain significance	Hereditary cancer-predisposing syndrome	2023-10-04	criteria provided, single submitter	clinical testing	The p.R689C variant (also known as c.2065C>T), located in coding exon 15 of the TSC1 gene, results from a C to T substitution at nucleotide position 2065. The arginine at codon 689 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved through the hedgehog, with histidine being the reference amino acid for lower vertebrates. In addition, this alteration is predicted to be tolerated by in silico analyses. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086626	SCV000284691	benign	Tuberous sclerosis 1	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000439211	SCV000515000	likely benign	not provided	2020-04-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000439211	SCV000844550	uncertain significance	not provided	2017-08-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001086626	SCV002040068	likely benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
MGZ Medical Genetics Center	RCV001086626	SCV002581408	uncertain significance	Tuberous sclerosis 1	2022-02-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000439211	SCV005092099	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TSC1: BP1, BP4