ClinVar Miner

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

dbSNP: 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 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 198 of the CLN5 protein (p.Leu198Pro). This variant is present in population databases (rs386833976, gnomAD 0.0009%). This missense change has been observed in individual(s) 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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