ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.422T>C (p.Leu141Pro)

dbSNP: rs2046239033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066933 SCV001231957 uncertain significance Neuronal ceroid lipofuscinosis 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 141 of the CLN3 protein (p.Leu141Pro). The leucine residue is moderately 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 not been reported in the literature in individuals affected with CLN3-related conditions. 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.

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