ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.915G>T (p.Gly305=)

dbSNP: rs397515293
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000882162 SCV001025387 likely benign Tuberous sclerosis 1 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018933 SCV001180230 likely benign Hereditary cancer-predisposing syndrome 2018-02-23 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.
Genome-Nilou Lab RCV000882162 SCV002040481 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501392 SCV002801742 likely benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-12-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003136 SCV004840510 likely benign Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing

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