ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.446G>A (p.Arg149His) (rs154774638)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664854 SCV000788874 uncertain significance Neuronal ceroid lipofuscinosis 6 2017-01-09 criteria provided, single submitter clinical testing
Invitae RCV000687100 SCV000814651 uncertain significance Neuronal ceroid lipofuscinosis 2018-02-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 149 of the CLN6 protein (p.Arg149His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs154774638, ExAC 0.01%). This variant has been reported as in combination with another CLN6 variant in a family affected with Kufs disease (PMID: 21549341). ClinVar contains an entry for this variant (Variation ID: 68096). 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.
SNPedia RCV000058912 SCV000090433 not provided not provided no assertion provided not provided

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