ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)

gnomAD frequency: 0.00002  dbSNP: rs1489623582
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549108 SCV000644326 benign Tuberous sclerosis 2 2024-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014482 SCV001175196 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-24 criteria provided, single submitter clinical testing The p.K72R variant (also known as c.215A>G), located in coding exon 2 of the TSC2 gene, results from an A to G substitution at nucleotide position 215. The lysine at codon 72 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000549108 SCV002040533 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459239 SCV004206872 uncertain significance Isolated focal cortical dysplasia type II 2023-08-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999266 SCV004828704 uncertain significance Tuberous sclerosis syndrome 2023-10-27 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 72 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 been identified in 2/250948 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.
GeneDx RCV004767367 SCV005377786 uncertain significance not provided 2024-04-01 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; This variant is associated with the following publications: (PMID: 18466115)

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