ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.565G>A (p.Gly189Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805513 SCV000945471 uncertain significance Neuronal ceroid lipofuscinosis 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 189 of the CLN3 protein (p.Gly189Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with CLN3-related conditions (PMID: 21990111, 24154662). 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, 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.

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