ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)

gnomAD frequency: 0.00019  dbSNP: rs45487691
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163685 SCV000214259 likely benign Hereditary cancer-predisposing syndrome 2014-10-15 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.
Invitae RCV000228389 SCV000285348 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000042813 SCV000395627 uncertain significance Tuberous sclerosis syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001171694 SCV000518471 likely benign not provided 2021-05-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25186949, 22558107)
CeGaT Center for Human Genetics Tuebingen RCV001171694 SCV001334513 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7
Genome-Nilou Lab RCV000228389 SCV002039750 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163685 SCV002533402 benign Hereditary cancer-predisposing syndrome 2021-02-03 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001171694 SCV004221433 benign not provided 2022-12-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000228389 SCV004360899 likely benign Tuberous sclerosis 2 2022-09-20 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042813 SCV000066609 not provided Tuberous sclerosis syndrome no assertion provided curation

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