ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1314G>A (p.Lys438=)

gnomAD frequency: 0.00001  dbSNP: rs201584852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460418 SCV000556494 benign Tuberous sclerosis 2 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010921 SCV001171186 likely benign Hereditary cancer-predisposing syndrome 2017-10-05 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.
Genome-Nilou Lab RCV000460418 SCV002041320 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001010921 SCV002532767 likely benign Hereditary cancer-predisposing syndrome 2021-08-09 criteria provided, single submitter curation

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