ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4086C>T (p.Val1362=)

gnomAD frequency: 0.00001  dbSNP: rs763847509
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467793 SCV000556578 benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768124 SCV000899057 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-03-30 criteria provided, single submitter clinical testing TSC2 NM_000548.4 exon 34 p.Val1362= (c.4086C>T): This variant has not been reported in the literature but is present in 14/33554 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs763847509). This variant is present in ClinVar (Variation ID:413692). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV001021835 SCV001183501 likely benign Hereditary cancer-predisposing syndrome 2019-02-06 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.
Genome-Nilou Lab RCV000467793 SCV002039824 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539990 SCV004781172 likely benign TSC2-related disorder 2023-09-05 criteria provided, single submitter 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).
All of Us Research Program, National Institutes of Health RCV004002081 SCV004818008 benign Tuberous sclerosis syndrome 2024-01-22 criteria provided, single submitter clinical testing

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