ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243639 SCV001416809 uncertain significance Neuronal ceroid lipofuscinosis 2019-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 110 of the CLN6 protein (p.Arg110Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs143928329, ExAC 0.06%). This variant has not been reported in the literature in individuals with CLN6-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 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507885 SCV001713714 uncertain significance not provided 2019-07-22 criteria provided, single submitter clinical testing

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