ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3233G>A (p.Arg1078Gln)

gnomAD frequency: 0.00002  dbSNP: rs368095502
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457622 SCV000544463 benign Tuberous sclerosis 2 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446790 SCV002611737 likely benign Hereditary cancer-predisposing syndrome 2024-10-11 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.
Myriad Genetics, Inc. RCV000457622 SCV005406044 likely benign Tuberous sclerosis 2 2024-08-16 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
All of Us Research Program, National Institutes of Health RCV004801985 SCV005427171 uncertain significance Tuberous sclerosis syndrome 2024-07-29 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1078 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 TSC2-related disorders in the literature. This variant has been identified in 5/250156 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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