ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.856A>G (p.Met286Val) (rs1800748)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122201 SCV000169099 benign not specified 2013-04-11 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 RCV000163382 SCV000213922 benign Hereditary cancer-predisposing syndrome 2014-12-25 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000122201 SCV000269923 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Met286Val in exon 10 of TSC2: This variant is not expected to have clinical sign ificance because it has been identified in 4.5% (8/178) of Japanese chromosomes from a broad population by the 1000 Genomes Project ( /projects/SNP; dbSNP rs1800748).
Invitae RCV001084045 SCV000285480 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122201 SCV000305260 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043277 SCV000395569 likely benign Tuberous sclerosis syndrome 2018-03-14 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.
Athena Diagnostics Inc RCV000713944 SCV000844593 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000122201 SCV001159981 benign not specified 2019-03-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043277 SCV000067079 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122201 SCV000086421 not provided not specified 2013-09-19 no assertion provided reference population

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