ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1534C>G (p.Leu512Val)

gnomAD frequency: 0.00001  dbSNP: rs772834557
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189982 SCV000243653 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083877 SCV000285247 likely benign Tuberous sclerosis 2 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012067 SCV001172469 likely benign Hereditary cancer-predisposing syndrome 2022-02-16 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 RCV001083877 SCV002039552 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001083877 SCV004360864 likely benign Tuberous sclerosis 2 2022-09-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000189982 SCV005625981 uncertain significance not provided 2024-10-09 criteria provided, single submitter clinical testing The TSC2 c.1534C>G (p.Leu512Val) variant has not been reported in individuals with TSC2-related conditions in the published literature. The frequency of this variant in the general population, 0.000039 (5/128946 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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