ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe)

gnomAD frequency: 0.00008  dbSNP: rs140772300
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464873 SCV000544344 benign Tuberous sclerosis 2 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001721496 SCV000620970 benign not provided 2018-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569892 SCV000675480 benign Hereditary cancer-predisposing syndrome 2023-02-13 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV000464873 SCV002039729 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000569892 SCV002533380 likely benign Hereditary cancer-predisposing syndrome 2021-12-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003418163 SCV004116369 uncertain significance TSC2-related condition 2023-02-21 criteria provided, single submitter clinical testing The TSC2 c.3287C>T variant is predicted to result in the amino acid substitution p.Ser1096Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2129560-C-T). This variant has conflicting interpretations in ClinVar of benign, likely benign and uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/405973/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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