ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn)

gnomAD frequency: 0.00001  dbSNP: rs138831802
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516657 SCV000615926 uncertain significance not specified 2017-07-24 criteria provided, single submitter clinical testing
Invitae RCV000529988 SCV000644628 benign Tuberous sclerosis 2 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023876 SCV001185813 likely benign Hereditary cancer-predisposing syndrome 2023-03-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx RCV001572599 SCV001797268 uncertain significance not provided 2020-12-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000529988 SCV002040275 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001572599 SCV004221471 uncertain significance not provided 2017-07-24 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000008 (2/250258 chromosomes, http://gnomad.broadinstitute.org), is uninformative in 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 benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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