ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2829C>T (p.Ala943=)

gnomAD frequency: 0.08157  dbSNP: rs4962081
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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118693 SCV000169094 benign not specified 2015-03-04 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000118693 SCV000205282 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala943Ala in exon 22 of TSC1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 9.1% (399/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs4962081).
Ambry Genetics RCV000162946 SCV000213433 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as 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.
Eurofins Ntd Llc (ga) RCV000118693 SCV000227885 benign not specified 2014-07-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000118693 SCV000303866 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000576543 SCV000478189 benign Tuberous sclerosis 1 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000370584 SCV000478190 benign Isolated focal cortical dysplasia type II 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV000576543 SCV000677528 benign Tuberous sclerosis 1 2017-04-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590200 SCV000696607 benign not provided 2016-05-26 criteria provided, single submitter clinical testing Variant summary: The TSC1 c.2829C>T (p.Ala943Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant along with 5/5 splice prediction tools predicting the variant not to have an impact on normal splicing. This variant was found in 9206/121392 control chromosomes (457 homozygotes), predominantly observed in the Latino, (143 homozygotes) subpopulation at a frequency of 0.1558127 (1804/11578). This frequency greatly exceeds the estimated maximal expected allele frequency of a pathogenic TSC1 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. In addition, multiple clinical diagnostic laboratories classified this variant as Benign. Taken together, this variant is classified as Benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000590200 SCV000884749 benign not provided 2024-11-12 criteria provided, single submitter clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV000576543 SCV001430708 likely benign Tuberous sclerosis 1 2020-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000576543 SCV001726098 benign Tuberous sclerosis 1 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000576543 SCV002040356 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000576543 SCV004015651 benign Tuberous sclerosis 1 2023-07-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000042257 SCV004360803 benign Tuberous sclerosis syndrome 2019-03-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000042257 SCV004840454 benign Tuberous sclerosis syndrome 2024-10-02 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000118693 SCV005088032 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 22% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 20. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000590200 SCV005225980 likely benign not provided criteria provided, single submitter not provided
Tuberous sclerosis database (TSC1) RCV000042257 SCV000066044 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000054906 SCV000083121 not provided Malignant tumor of urinary bladder no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000055028 SCV000083246 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation
Genetic Services Laboratory, University of Chicago RCV000118693 SCV000153108 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center RCV000118693 SCV001917504 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118693 SCV001974140 benign not specified no assertion criteria provided clinical testing

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