ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1365C>T (p.Ser455=)

gnomAD frequency: 0.00004  dbSNP: rs34567401
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721230 SCV000243541 likely benign not provided 2020-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000227320 SCV000285239 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011055 SCV001171334 likely benign Hereditary cancer-predisposing syndrome 2019-01-11 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 RCV000227320 SCV002041328 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001011055 SCV002532778 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-17 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004703453 SCV004221404 benign not specified 2022-09-08 criteria provided, single submitter clinical testing The frequency of this variant in the general population (http://gnomad.broadinstitute.org) is higher than would generally be expected for pathogenic variants in this gene. Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing. This nucleotide position exhibits low evolutionary conservation. This variant has been seen where an alternate explanation for disease was also identified.
All of Us Research Program, National Institutes of Health RCV003996862 SCV004819262 likely benign Tuberous sclerosis syndrome 2023-11-30 criteria provided, single submitter clinical testing This synonymous variant causes a nucleotide substitution but does not change the encoded amino acid at codon 455 of the TSC2 protein. 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 6/186614 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.
PreventionGenetics, part of Exact Sciences RCV004539757 SCV004757600 likely benign TSC2-related disorder 2024-02-29 no assertion criteria provided 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).

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