ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.176G>A (p.Arg59His)

gnomAD frequency: 0.00002  dbSNP: rs753197537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797759 SCV000937338 uncertain significance Neuronal ceroid lipofuscinosis 2022-10-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 108 of the CLN5 protein (p.Arg108His). This variant is present in population databases (rs753197537, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 643941). 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. 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.
Ambry Genetics RCV002537054 SCV003712075 uncertain significance Inborn genetic diseases 2022-06-30 criteria provided, single submitter clinical testing The c.323G>A (p.R108H) alteration is located in exon 2 (coding exon 2) of the CLN5 gene. This alteration results from a G to A substitution at nucleotide position 323, causing the arginine (R) at amino acid position 108 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272142 SCV001453811 uncertain significance Neuronal ceroid lipofuscinosis 5 2020-09-16 no assertion criteria provided clinical testing

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