ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3468A>G (p.Pro1156=)

gnomAD frequency: 0.00010  dbSNP: rs147242130
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703611 SCV000519075 benign not provided 2021-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000466777 SCV000556466 benign Tuberous sclerosis 2 2025-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000466777 SCV002039326 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002460072 SCV002618046 likely benign Hereditary cancer-predisposing syndrome 2015-01-06 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000466777 SCV004016173 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing

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