ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.521C>T (p.Ser174Leu)

gnomAD frequency: 0.00001  dbSNP: rs747538587
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551476 SCV000644618 likely benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000590906 SCV000700121 uncertain significance Tuberous sclerosis syndrome 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of Tuberous sclerosis complex. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Ambry Genetics RCV001023750 SCV001185668 likely benign Hereditary cancer-predisposing syndrome 2022-12-07 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 RCV000551476 SCV002041070 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Molecular Genetics Lab, CHRU Brest RCV003883156 SCV004697728 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000590906 SCV004816972 uncertain significance Tuberous sclerosis syndrome 2023-11-30 criteria provided, single submitter clinical testing This missense variant replaces serine with leucine at codon 174 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 3/251490 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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