Submissions for variant NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)

dbSNP: rs45491698

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000201071	SCV000255889	likely pathogenic	Tuberous sclerosis 2	2015-07-09	criteria provided, single submitter	clinical testing
Invitae	RCV000201071	SCV000644403	pathogenic	Tuberous sclerosis 2	2022-07-05	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects TSC2 function (PMID: 21309039). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 49241). This missense change has been observed in individual(s) with tuberous sclerosis complex (TSC) (PMID: 21520333). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1032 of the TSC2 protein (p.Arg1032Pro).
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV000201071	SCV001423569	likely pathogenic	Tuberous sclerosis 2	2020-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000201071	SCV002040965	likely pathogenic	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042500	SCV000066291	not provided	Tuberous sclerosis syndrome		no assertion provided	curation