ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.585C>T (p.Ile195=)

gnomAD frequency: 0.00004  dbSNP: rs397515309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644401 SCV000766094 likely benign Tuberous sclerosis 2 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358837 SCV002647667 likely benign Hereditary cancer-predisposing syndrome 2020-02-27 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.
Fulgent Genetics, Fulgent Genetics RCV002499098 SCV002812021 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-10-04 criteria provided, single submitter clinical testing

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