ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1771G>A (p.Val591Ile)

dbSNP: rs984275273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548111 SCV000644280 benign Tuberous sclerosis 2 2023-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302845 SCV004001434 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-10 criteria provided, single submitter clinical testing The p.V591I variant (also known as c.1771G>A), located in coding exon 16 of the TSC2 gene, results from a G to A substitution at nucleotide position 1771. The valine at codon 591 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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.
All of Us Research Program, National Institutes of Health RCV003999257 SCV004819315 uncertain significance Tuberous sclerosis syndrome 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 591 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 tuberous sclerosis complex in the literature. This variant has been identified in 1/250794 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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