ClinVar Miner

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

dbSNP: rs147719291
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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

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