ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1489G>C (p.Val497Leu)

dbSNP: rs946491568
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541596 SCV000641509 benign Tuberous sclerosis 1 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395390 SCV002700037 likely benign Hereditary cancer-predisposing syndrome 2020-11-13 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 RCV004802150 SCV005426953 uncertain significance Tuberous sclerosis syndrome 2024-08-06 criteria provided, single submitter clinical testing

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