ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)

gnomAD frequency: 0.00002  dbSNP: rs886051795
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330059 SCV000395659 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000415620 SCV000544316 likely benign Tuberous sclerosis 2 2023-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000415620 SCV002040223 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338901 SCV002635109 likely benign Hereditary cancer-predisposing syndrome 2022-06-24 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.
All of Us Research Program, National Institutes of Health RCV000330059 SCV004833036 uncertain significance Tuberous sclerosis syndrome 2023-05-04 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 1612 of the TSC2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 5/279408 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415620 SCV000493814 uncertain significance Tuberous sclerosis 2 2015-09-26 no assertion criteria provided clinical testing

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