ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)

dbSNP: rs748936673
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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 RCV000644107 SCV000765797 benign Tuberous sclerosis 2 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001568107 SCV001791921 uncertain significance not provided 2024-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000644107 SCV002040893 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343304 SCV002647171 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-21 criteria provided, single submitter clinical testing The p.P1766L variant (also known as c.5297C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5297. The proline at codon 1766 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. 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.
All of Us Research Program, National Institutes of Health RCV004003995 SCV004834077 uncertain significance Tuberous sclerosis syndrome 2023-07-19 criteria provided, single submitter clinical testing This missense variant replaces proline with leucine at codon 1766 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 1/250264 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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