ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4597C>T (p.Leu1533Phe)

dbSNP: rs1567528528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694234 SCV000822669 uncertain significance Tuberous sclerosis 2 2018-06-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 1533 of the TSC2 protein (p.Leu1533Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TSC2-related disease. This variant is not present in population databases (ExAC no frequency).
GenomeConnect - Invitae Patient Insights Network RCV000694234 SCV001749643 not provided Tuberous sclerosis 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-12-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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