ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5175G>A (p.Val1725=)

dbSNP: rs886038357
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250400 SCV000305243 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000462257 SCV000556606 likely benign Tuberous sclerosis 2 2025-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000462257 SCV002039922 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338798 SCV002643119 likely benign Hereditary cancer-predisposing syndrome 2020-03-25 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 RCV003998987 SCV004836909 likely benign Tuberous sclerosis syndrome 2023-10-02 criteria provided, single submitter clinical testing

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