ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2365G>A (p.Val789Ile)

gnomAD frequency: 0.00001  dbSNP: rs779472379
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215219 SCV000274649 benign Hereditary cancer-predisposing syndrome 2021-10-04 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.
Invitae RCV000458155 SCV000544532 benign Tuberous sclerosis 2 2024-01-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001119143 SCV001277494 likely benign Tuberous sclerosis syndrome 2017-09-25 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.
Genome-Nilou Lab RCV000458155 SCV002039651 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000215219 SCV002531063 likely benign Hereditary cancer-predisposing syndrome 2022-03-01 criteria provided, single submitter curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153501 SCV003843604 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001119143 SCV004831342 uncertain significance Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing

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