ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.452G>A (p.Arg151Gln)

gnomAD frequency: 0.00001  dbSNP: rs779343776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227949 SCV001400329 uncertain significance Neuronal ceroid lipofuscinosis 1 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 151 of the PPT1 protein (p.Arg151Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs779343776, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with PPT1-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 tolerated. 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.
GeneDx RCV001540053 SCV001757889 uncertain significance not provided 2020-02-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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