ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2478G>C (p.Leu826=)

gnomAD frequency: 0.00004  dbSNP: rs149719514
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230900 SCV000284699 benign Tuberous sclerosis 1 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001697039 SCV000720884 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002257397 SCV000851509 likely benign Hereditary cancer-predisposing syndrome 2017-01-26 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 RCV000230900 SCV002040382 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257397 SCV002528867 likely benign Hereditary cancer-predisposing syndrome 2020-10-18 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003894903 SCV004717273 likely benign TSC1-related disorder 2020-10-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000054915 SCV004824010 likely benign Tuberous sclerosis syndrome 2024-02-05 criteria provided, single submitter clinical testing This synonymous variant causes a G>C nucleotide change in exon 19 of the TSC1 gene. Splice site prediction tools suggest that this variant may impact RNA splicing. To our knowledge, RNA 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 not been identified 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.
Tuberous sclerosis database (TSC1) RCV000054915 SCV000083130 not provided Tuberous sclerosis syndrome no assertion provided curation

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