ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)

gnomAD frequency: 0.00011  dbSNP: rs199755731
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163280 SCV000213808 likely benign Hereditary cancer-predisposing syndrome 2018-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000034606 SCV000243523 benign not provided 2020-01-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22703879)
Labcorp Genetics (formerly Invitae), Labcorp RCV001083195 SCV000284693 benign Tuberous sclerosis 1 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317696 SCV000478215 likely benign Isolated focal cortical dysplasia type II 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.
Illumina Laboratory Services, Illumina RCV001083195 SCV000478216 likely benign Tuberous sclerosis 1 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV000515239 SCV000611436 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2017-05-23 criteria provided, single submitter clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV001083195 SCV001430710 likely benign Tuberous sclerosis 1 2020-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083195 SCV002040066 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163280 SCV002530956 benign Hereditary cancer-predisposing syndrome 2021-02-09 criteria provided, single submitter curation
Color Diagnostics, LLC DBA Color Health RCV001083195 SCV004360818 likely benign Tuberous sclerosis 1 2022-08-10 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001083195 SCV005404765 likely benign Tuberous sclerosis 1 2024-08-12 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034606 SCV000043510 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003934882 SCV004748146 likely benign TSC1-related disorder 2020-10-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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