ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro)

dbSNP: rs1567458244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761363 SCV000891349 likely pathogenic Tuberous sclerosis 2 2018-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000761363 SCV001517990 uncertain significance Tuberous sclerosis 2 2024-08-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 612 of the TSC2 protein (p.Leu612Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with tuberous sclerosis complex (TSC) (PMID: 25782670, 31655562). ClinVar contains an entry for this variant (Variation ID: 623238). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TSC2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000761363 SCV002039580 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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