ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) (rs369126677)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516351 SCV000615831 uncertain significance not specified 2016-09-22 criteria provided, single submitter clinical testing
Invitae RCV000632706 SCV000753892 uncertain significance Neuronal ceroid lipofuscinosis 2017-12-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 28 of the TPP1 protein (p.Arg28Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs369126677, ExAC 0.002%). This variant has not been reported in the literature in individuals with TPP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV000720484 SCV000851361 likely benign Seizures 2017-12-18 criteria provided, single submitter clinical testing Other strong data;In silico models in agreement (benign)

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