ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn)

gnomAD frequency: 0.00001  dbSNP: rs144329595
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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 RCV001224033 SCV001396209 benign Tuberous sclerosis 2 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001587251 SCV001822666 uncertain significance not provided 2020-02-28 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
Genome-Nilou Lab RCV001224033 SCV002040721 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255633 SCV002533330 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-13 criteria provided, single submitter curation
Ambry Genetics RCV002255633 SCV002748241 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-13 criteria provided, single submitter clinical testing The p.T927N variant (also known as c.2780C>A), located in coding exon 24 of the TSC2 gene, results from a C to A substitution at nucleotide position 2780. The threonine at codon 927 is replaced by asparagine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002491707 SCV002793879 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-05-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004804 SCV004831440 uncertain significance Tuberous sclerosis syndrome 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces threonine with asparagine at codon 927 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 TSC2-related disorders in the literature. This variant has been identified in 1/31338 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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