ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1143G>A (p.Arg381=) (rs45517155)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083136 SCV000285227 benign Tuberous sclerosis 2 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000246218 SCV000305139 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000246218 SCV000515016 benign not specified 2015-07-24 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 RCV000560947 SCV000675467 likely benign Hereditary cancer-predisposing syndrome 2015-04-03 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000246218 SCV000855537 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000234777 SCV001150686 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042928 SCV001279442 likely benign Tuberous sclerosis syndrome 2017-04-28 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.
Tuberous sclerosis database (TSC2) RCV000042928 SCV000066725 not provided Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000234777 SCV001808796 likely benign not provided no assertion criteria provided clinical testing

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