ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) (rs113994140)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431708 SCV000520887 likely pathogenic not provided 2017-01-19 criteria provided, single submitter clinical testing A published R104Q variant that is likely pathogenic has been identified in the PRICKLE1 gene. The R104Q variant has been previously reported as a homozygous variant in multiple unrelated individuals with progressive myoclonus epilepsy (PME)-ataxia syndrome; individuals in these families who were heterozygous for the variant were not affected (Bassuk et al., 2008). Functional studies suggest that the R104Q variant impairs protein function (Bassuk et al., 2008). The R104Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R104Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
OMIM RCV000002373 SCV000022531 pathogenic Progressive myoclonus epilepsy with ataxia 2008-11-01 no assertion criteria provided literature only
GeneReviews RCV000002373 SCV000041601 pathologic Progressive myoclonus epilepsy with ataxia 2011-12-08 no assertion criteria provided curation Converted during submission to Pathogenic.
Section for Clinical Neurogenetics,University of Tübingen RCV000002373 SCV001156099 likely pathogenic Progressive myoclonus epilepsy with ataxia 2019-08-01 no assertion criteria provided research

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