ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.273G>A (p.Ser91=)

gnomAD frequency: 0.00070  dbSNP: rs115097221
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232442 SCV000284708 benign Tuberous sclerosis 1 2025-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000245356 SCV000303865 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000245356 SCV000344517 likely benign not specified 2016-09-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000232442 SCV000478261 likely benign Tuberous sclerosis 1 2018-03-26 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 RCV000403188 SCV000478262 likely benign Isolated focal cortical dysplasia type II 2018-03-26 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.
Ambry Genetics RCV000573437 SCV000675349 benign Hereditary cancer-predisposing syndrome 2015-03-16 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.
GeneDx RCV001682935 SCV001905367 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000232442 SCV002040513 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573437 SCV002528899 benign Hereditary cancer-predisposing syndrome 2021-04-23 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002494623 SCV002807770 likely benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001682935 SCV004010886 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TSC1: BP4, BP7, BS1
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001682935 SCV004221392 benign not provided 2015-05-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998774 SCV004840554 benign Tuberous sclerosis syndrome 2024-02-05 criteria provided, single submitter clinical testing

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