ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.573C>T (p.Leu191=)

gnomAD frequency: 0.00001  dbSNP: rs397515059
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552561 SCV000644647 likely benign Tuberous sclerosis 2 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024464 SCV001186487 likely benign Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000552561 SCV002041233 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055288 SCV000083508 not provided Tuberous sclerosis syndrome no assertion provided curation

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