ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)

dbSNP: rs1060500970
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080775 SCV000544558 likely benign Tuberous sclerosis 2 2024-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000524092 SCV000620724 likely benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001080775 SCV002041282 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379425 SCV002694607 likely benign Hereditary cancer-predisposing syndrome 2023-04-06 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.
All of Us Research Program, National Institutes of Health RCV004000722 SCV004817051 uncertain significance Tuberous sclerosis syndrome 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces serine with phenylalanine at codon 318 of the TSC2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has been identified in 4/271574 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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