ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)

dbSNP: rs587778736
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644076 SCV000765766 benign Tuberous sclerosis 2 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001556535 SCV001778137 uncertain significance not provided 2019-06-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24728327)
Genome-Nilou Lab RCV000644076 SCV002040799 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000644076 SCV003843124 uncertain significance Tuberous sclerosis 2 2022-10-24 criteria provided, single submitter clinical testing The TSC2 c.3962A>T (p.Glu1321Val) missense change has a maximum subpopulation frequency of 0.00090% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in the literature in individuals with tuberous sclerosis complex. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics RCV003298144 SCV003988613 likely benign Hereditary cancer-predisposing syndrome 2023-03-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Baylor Genetics RCV003460863 SCV004204516 uncertain significance Isolated focal cortical dysplasia type II 2023-10-27 criteria provided, single submitter clinical testing
ITMI RCV000122228 SCV000086449 not provided not specified 2013-09-19 no assertion provided reference population

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