ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.116G>A (p.Arg39His) (rs779456928)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187080 SCV000240655 likely benign not specified 2013-08-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000456247 SCV000549215 uncertain significance Neuronal ceroid lipofuscinosis 2016-09-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 39 of the CLN6 protein (p.Arg39His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs779456928, ExAC 0.009%) but has not been reported in the literature in individuals with a CLN6-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 histidine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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