ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)

gnomAD frequency: 0.00003  dbSNP: rs759004251
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232439 SCV000285398 likely benign Tuberous sclerosis 2 2024-01-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502912 SCV000597597 uncertain significance not specified 2017-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562405 SCV000664705 likely benign Hereditary cancer-predisposing syndrome 2022-10-18 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000232439 SCV000782410 uncertain significance Tuberous sclerosis 2 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000232439 SCV002039850 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003417807 SCV004113451 uncertain significance TSC2-related condition 2022-12-19 criteria provided, single submitter clinical testing The TSC2 c.4346C>T variant is predicted to result in the amino acid substitution p.Ser1449Phe. This variant was reported in a patient with breast cancer (Table S2, Chan et al. 2018. PubMed ID: 30093976). This variant is reported in 0.00080% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2134569-C-T). In ClinVar this variant is interpreted by other laboratories as uncertain (3) and likely benign (2) (https://www.ncbi.nlm.nih.gov/clinvar/variation/238045/). 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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