ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1690G>C (p.Val564Leu)

dbSNP: rs147072281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001983401 SCV002271555 benign Tuberous sclerosis 2 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002407251 SCV002715943 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-27 criteria provided, single submitter clinical testing The p.V564L variant (also known as c.1690G>C), located in coding exon 15 of the TSC2 gene, results from a G to C substitution at nucleotide position 1690. The valine at codon 564 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
All of Us Research Program, National Institutes of Health RCV004011078 SCV004819302 uncertain significance Tuberous sclerosis syndrome 2023-04-03 criteria provided, single submitter clinical testing This missense variant replaces valine with leucine at codon 564 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 tuberous sclerosis complex in the literature. This variant has been identified in 1/250684 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 RCV004763291 SCV005369731 uncertain significance not provided 2023-05-31 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

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