ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) (rs104894386)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989149 SCV001139365 pathogenic Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989149 SCV001494463 uncertain significance Neuronal ceroid lipofuscinosis 2020-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 112 of the CLN5 protein (p.Arg112Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 16814585). ClinVar contains an entry for this variant (Variation ID: 56533). Experimental studies have shown that this variant affects CLN5 protein function (PMID: 20052765). This variant disrupts the p.Arg112 amino acid residue in CLN5. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15728307, 20052765, 30078242). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Nilou-Genome Lab RCV000049946 SCV001977458 likely pathogenic Neuronal ceroid lipofuscinosis 5 2021-08-10 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049946 SCV000082355 probable-pathogenic Neuronal ceroid lipofuscinosis 5 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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