ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.257C>T (p.Ala86Val)

gnomAD frequency: 0.00001  dbSNP: rs1369594860
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701640 SCV000830451 benign Tuberous sclerosis 2 2023-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016002 SCV001176905 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-17 criteria provided, single submitter clinical testing The p.A86V variant (also known as c.257C>T), located in coding exon 3 of the TSC2 gene, results from a C to T substitution at nucleotide position 257. The alanine at codon 86 is replaced by valine, an amino acid with 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.
GeneDx RCV001580538 SCV001817767 uncertain significance not provided 2021-02-03 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001580538 SCV002011343 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000701640 SCV002041047 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001016002 SCV002531092 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-23 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003999717 SCV004816928 uncertain significance Tuberous sclerosis syndrome 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 86 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 1/211160 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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