ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser)

gnomAD frequency: 0.00003  dbSNP: rs1060500944
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477560 SCV000544440 benign Tuberous sclerosis 2 2025-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002255385 SCV000847722 likely benign Hereditary cancer-predisposing syndrome 2020-06-30 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 RCV000477560 SCV002041362 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255385 SCV002530977 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-24 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004000705 SCV004819292 likely benign Tuberous sclerosis syndrome 2023-10-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000477560 SCV005406080 likely benign Tuberous sclerosis 2 2024-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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