Submissions for variant NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)

gnomAD frequency: 0.00001  dbSNP: rs777459404

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000699574	SCV000828290	benign	Tuberous sclerosis 2	2024-09-21	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000699574	SCV001481653	uncertain significance	Tuberous sclerosis 2	2020-01-10	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV001756222	SCV001996265	uncertain significance	not provided	2023-12-22	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115)
Genome-Nilou Lab	RCV000699574	SCV002040534	uncertain significance	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003163237	SCV003868870	uncertain significance	Hereditary cancer-predisposing syndrome	2024-08-21	criteria provided, single submitter	clinical testing	The p.A77T variant (also known as c.229G>A), located in coding exon 3 of the TSC2 gene, results from a G to A substitution at nucleotide position 229. The alanine at codon 77 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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.
CeGaT Center for Human Genetics Tuebingen	RCV001756222	SCV005431954	uncertain significance	not provided	2024-09-01	criteria provided, single submitter	clinical testing