ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1317G>C (p.Leu439=)

gnomAD frequency: 0.00003  dbSNP: rs770692313
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086396 SCV000562497 likely benign Tuberous sclerosis 1 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000827336 SCV000968975 likely benign not provided 2018-05-15 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.
Ambry Genetics RCV001010956 SCV001171223 likely benign Hereditary cancer-predisposing syndrome 2018-01-09 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.
Genome-Nilou Lab RCV001086396 SCV002040448 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000827336 SCV004156650 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing TSC1: BP4, BP7
All of Us Research Program, National Institutes of Health RCV004002195 SCV004820581 uncertain significance Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing This variant is located in the TSC1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has been identified in 3/282754 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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