ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4095G>A (p.Ser1365=)

gnomAD frequency: 0.00025  dbSNP: rs139630605
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433415 SCV000535846 likely benign not specified 2017-11-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000458601 SCV000556688 benign Tuberous sclerosis 2 2024-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562526 SCV000675633 likely benign Hereditary cancer-predisposing syndrome 2016-02-19 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 RCV000458601 SCV002039422 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000562526 SCV002533501 benign Hereditary cancer-predisposing syndrome 2020-07-02 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003326343 SCV004033434 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7
All of Us Research Program, National Institutes of Health RCV000055250 SCV004833067 benign Tuberous sclerosis syndrome 2023-12-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055250 SCV000083469 not provided Tuberous sclerosis syndrome no assertion provided curation

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