ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)

gnomAD frequency: 0.00022  dbSNP: rs137920189
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705067 SCV000243569 likely benign not provided 2020-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28050010, 26336887, 24631838)
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203097 SCV000257719 uncertain significance Tuberous sclerosis 2 2015-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000203097 SCV000544482 benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567626 SCV000664689 likely benign Hereditary cancer-predisposing syndrome 2018-10-19 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.
Genome-Nilou Lab RCV000203097 SCV002039680 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000567626 SCV002533318 likely benign Hereditary cancer-predisposing syndrome 2020-11-10 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004537590 SCV004730222 likely benign TSC2-related disorder 2023-04-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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