ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)

gnomAD frequency: 0.00004  dbSNP: rs371074761
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000302466 SCV000395590 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.
Athena Diagnostics Inc RCV000518552 SCV000615885 uncertain significance not specified 2017-04-17 criteria provided, single submitter clinical testing
Invitae RCV000555395 SCV000644286 benign Tuberous sclerosis 2 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562015 SCV000675533 likely benign Hereditary cancer-predisposing syndrome 2020-06-30 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.
GeneDx RCV001545749 SCV001765138 likely benign not provided 2019-08-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23514105, 29641532)
Genome-Nilou Lab RCV000555395 SCV002039576 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000562015 SCV002531003 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-22 criteria provided, single submitter curation

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