ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)

gnomAD frequency: 0.00001  dbSNP: rs202082319
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166873 SCV000217689 likely benign Hereditary cancer-predisposing syndrome 2023-03-15 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.
Invitae RCV000553448 SCV000644684 likely benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001762388 SCV002001003 uncertain significance not provided 2020-04-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22703879)
Genome-Nilou Lab RCV000553448 SCV002041117 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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