ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4398G>A (p.Ser1466=)

dbSNP: rs376086638
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437770 SCV000520604 likely benign not specified 2015-10-29 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 RCV000551848 SCV000644535 benign Tuberous sclerosis 2 2025-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000551848 SCV002039462 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328941 SCV002633307 likely benign Hereditary cancer-predisposing syndrome 2020-07-08 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.
All of Us Research Program, National Institutes of Health RCV004000339 SCV004832415 likely benign Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing

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