ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.249G>A (p.Lys83=)

dbSNP: rs1202653675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001393254 SCV001594914 likely benign Tuberous sclerosis 2 2024-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298639 SCV004001427 likely benign Hereditary cancer-predisposing syndrome 2023-06-12 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.
CeGaT Center for Human Genetics Tuebingen RCV003394028 SCV004133802 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7
All of Us Research Program, National Institutes of Health RCV004006860 SCV004826454 likely benign Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing

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