ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.209G>A (p.Arg70His) (rs386834124)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623329 SCV000743028 likely pathogenic Inborn genetic diseases 2017-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Counsyl RCV000050117 SCV000800772 likely pathogenic Ceroid lipofuscinosis neuronal 8 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV000464589 SCV000549256 uncertain significance Neuronal ceroid lipofuscinosis 2016-09-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 70 of the CLN8 protein (p.Arg70His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs386834124, ExAC 0.02%). This variant has been reported in the homozygous state in two individual affected with variant late infantile ceroid-lipofuscinosis (PMID: 2199011). ClinVar contains an entry for this variant (Variation ID: 56704). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050117 SCV000082527 probable-pathogenic Ceroid lipofuscinosis neuronal 8 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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