ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4176G>A (p.Gln1392=)

gnomAD frequency: 0.00001  dbSNP: rs749930791
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547824 SCV000644512 likely benign Tuberous sclerosis 2 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021991 SCV001183677 likely benign Hereditary cancer-predisposing syndrome 2018-06-11 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.
GeneDx RCV001549763 SCV001769972 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000547824 SCV002039436 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001021991 SCV002533507 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-10 criteria provided, single submitter curation

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