ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)

dbSNP: rs147719291
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469951 SCV000544359 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001696845 SCV000718155 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318520 SCV000849685 likely benign Hereditary cancer-predisposing syndrome 2022-12-29 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001543108 SCV001761615 uncertain significance Tuberous sclerosis syndrome 2021-07-22 criteria provided, single submitter clinical testing The TSC2 c.4216G>A (p.Asp1406Asn) missense change has a maximum subpopulation frequency of 0.017% gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/16-2134439-G-A). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with tuberous sclerosis complex. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4.
Genome-Nilou Lab RCV000469951 SCV002039835 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001696845 SCV004129855 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing TSC2: BP4
Myriad Genetics, Inc. RCV000469951 SCV005404712 likely benign Tuberous sclerosis 2 2024-08-20 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.