ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) (rs386833976)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044966 SCV001208792 uncertain significance Neuronal ceroid lipofuscinosis 2019-06-22 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 198 of the CLN5 protein (p.Leu198Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed as a single variant in individuals affected with neuronal ceroid lipofuscinosis (PMID: 21990111, 30264640). ClinVar contains an entry for this variant (Variation ID: 56540). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049953 SCV000082362 probable-pathogenic Neuronal ceroid lipofuscinosis 5 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Natera, Inc. RCV000049953 SCV001453816 uncertain significance Neuronal ceroid lipofuscinosis 5 2020-09-16 no assertion criteria provided clinical testing

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