ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2357G>A (p.Arg786Gln) (rs1336228562)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690186 SCV000817865 uncertain significance Tuberous sclerosis 1 2018-06-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 786 of the TSC1 protein (p.Arg786Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC1-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Illumina Clinical Services Laboratory,Illumina RCV000690186 SCV001251619 uncertain significance Tuberous sclerosis 1 2020-01-13 criteria provided, single submitter clinical testing The TSC1 c.2357G>A (p.Arg786Gln) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000065 in the European (non-Finnish) population of the Genome Aggregation Database in a region of good sequence coverage, but this is based on one allele only so the variant is presumed to be rare. Based on the limited evidence, the p.Arg786Gln is classified as a variant of unknown significance for tuberous sclerosis.

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