ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.713T>C (p.Leu238Pro)

gnomAD frequency: 0.00001  dbSNP: rs768623382
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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 RCV000809469 SCV000949621 benign Tuberous sclerosis 2 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026083 SCV001188394 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-12 criteria provided, single submitter clinical testing The p.L238P variant (also known as c.713T>C), located in coding exon 7 of the TSC2 gene, results from a T to C substitution at nucleotide position 713. The leucine at codon 238 is replaced by proline, an amino acid with 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.
Genome-Nilou Lab RCV000809469 SCV002040563 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001712 SCV004817008 uncertain significance Tuberous sclerosis syndrome 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces leucine with proline at codon 238 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 1/250378 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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