Submissions for variant NM_000548.5(TSC2):c.1821G>A (p.Ala607=)

gnomAD frequency: 0.00050  dbSNP: rs149543046

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125654	SCV000169116	benign	not specified	2014-03-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000163320	SCV000213848	likely benign	Hereditary cancer-predisposing syndrome	2015-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV000125654	SCV000305160	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000466723	SCV000556609	benign	Tuberous sclerosis 2	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000055610	SCV001277390	likely benign	Tuberous sclerosis syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV000466723	SCV002041391	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163320	SCV002531007	benign	Hereditary cancer-predisposing syndrome	2020-09-22	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003326344	SCV004033428	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
Tuberous sclerosis database (TSC2)	RCV000055610	SCV000083835	not provided	Tuberous sclerosis syndrome		no assertion provided	curation