ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1393G>A (p.Val465Met)

gnomAD frequency: 0.00001  dbSNP: rs758874054
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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 RCV001052755 SCV001216980 benign Tuberous sclerosis 2 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393267 SCV002697639 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-07 criteria provided, single submitter clinical testing The p.V465M variant (also known as c.1393G>A), located in coding exon 13 of the TSC2 gene, results from a G to A substitution at nucleotide position 1393. The valine at codon 465 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly 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.
All of Us Research Program, National Institutes of Health RCV004803412 SCV005427084 uncertain significance Tuberous sclerosis syndrome 2024-07-10 criteria provided, single submitter clinical testing This missense variant replaces valine with methionine at codon 465 of the TSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function. 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 1/156198 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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