ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2019G>A (p.Ala673=)

gnomAD frequency: 0.00003  dbSNP: rs772993105
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704469 SCV000530634 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461306 SCV000556511 likely benign Tuberous sclerosis 2 2024-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014069 SCV001174732 likely benign Hereditary cancer-predisposing syndrome 2018-01-19 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 RCV000461306 SCV002041423 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000492 SCV004814962 likely benign Tuberous sclerosis syndrome 2023-06-08 criteria provided, single submitter clinical testing

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