ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.629C>T (p.Ala210Val)

gnomAD frequency: 0.00001  dbSNP: rs764925296
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167112 SCV000217942 likely benign Hereditary cancer-predisposing syndrome 2019-05-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001721086 SCV000243638 likely benign not provided 2019-07-26 criteria provided, single submitter clinical testing
Invitae RCV000233190 SCV000285467 benign Tuberous sclerosis 2 2024-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000233190 SCV002041242 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000167112 SCV002534083 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-28 criteria provided, single submitter curation

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