ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2479G>A (p.Val827Met)

gnomAD frequency: 0.00002  dbSNP: rs543738044
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768121 SCV000899054 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-03-30 criteria provided, single submitter clinical testing TSC2 NM_000548.4 exon 22 p.Val827Met (c.2479G>A): This variant has not been reported in the literature but is present in 2/30782 South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs543738044). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001043364 SCV001207101 benign Tuberous sclerosis 2 2023-06-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001043364 SCV002040705 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678818 SCV005181138 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-22 criteria provided, single submitter clinical testing The p.V827M variant (also known as c.2479G>A), located in coding exon 21 of the TSC2 gene, results from a G to A substitution at nucleotide position 2479. The valine at codon 827 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Myriad Genetics, Inc. RCV001043364 SCV005404719 likely benign Tuberous sclerosis 2 2024-08-13 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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