ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1071G>A (p.Ala357=)

gnomAD frequency: 0.00002  dbSNP: rs776395163
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234437 SCV000285221 likely benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000603071 SCV000716329 likely benign not specified 2017-03-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000234437 SCV002041294 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257535 SCV002532743 likely benign Hereditary cancer-predisposing syndrome 2021-07-19 criteria provided, single submitter curation
Ambry Genetics RCV002257535 SCV002721615 likely benign Hereditary cancer-predisposing syndrome 2020-07-17 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.

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