ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val)

gnomAD frequency: 0.00001  dbSNP: rs1373235682
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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 RCV000701459 SCV000830260 likely benign Tuberous sclerosis 2 2024-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334351 SCV002645297 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-23 criteria provided, single submitter clinical testing The p.A1722V variant (also known as c.5165C>T), located in coding exon 40 of the TSC2 gene, results from a C to T substitution at nucleotide position 5165. The alanine at codon 1722 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493231 SCV002798202 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004802387 SCV005428378 uncertain significance Tuberous sclerosis syndrome 2024-05-14 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 1722 of the TSC2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 TSC2-related disorders in the literature. This variant has been identified in 1/250750 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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