ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.929G>A (p.Arg310Gln)

gnomAD frequency: 0.00002  dbSNP: rs769900670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706190 SCV000835227 uncertain significance Neuronal ceroid lipofuscinosis 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 310 of the CLN6 protein (p.Arg310Gln). This variant is present in population databases (rs769900670, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CLN6-related conditions. ClinVar contains an entry for this variant (Variation ID: 582187). 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736894 SCV004562737 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing Due to limited information, including a lack of clinical and/or functional data and an uninformative population frequency, the clinical significance of this variant is uncertain at this time.

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