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
Invitae RCV000761363 SCV001517990 uncertain significance Tuberous sclerosis 2 2022-03-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 623238). This missense change has been observed in individual(s) with tuberous sclerosis complex (TSC) (PMID: 25782670, 31655562). This variant is not present in population databases (gnomAD no frequency). 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).
Genome-Nilou Lab RCV000761363 SCV002039580 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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