ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)

dbSNP: rs587778734
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550508 SCV000644675 likely benign Tuberous sclerosis 2 2024-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017849 SCV001179007 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-02 criteria provided, single submitter clinical testing The p.D282E variant (also known as c.846C>A), located in coding exon 8 of the TSC2 gene, results from a C to A substitution at nucleotide position 846. The aspartic acid at codon 282 is replaced by glutamic acid, an amino acid with highly similar properties. This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects (Bodian DL et al. PLoS One, 2014 Apr;9:e94554). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000550508 SCV002040574 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997364 SCV004822276 uncertain significance Tuberous sclerosis syndrome 2023-04-03 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glutamic acid at codon 282 of the TSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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 not been identified 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.
ITMI RCV000122220 SCV000086441 not provided not specified 2013-09-19 no assertion provided reference population

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