ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) (rs281865563)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188738 SCV000242362 uncertain significance not provided 2012-10-03 criteria provided, single submitter clinical testing p.Arg144His (CGT>CAT):c.431 G>A in exon 5 of the PRICKLE1 gene (NM_153026.2). The Arg144His missense change was previously identified in a patient with myoclonic epilepsy and intellectual disability who did not have a second detectable mutation in the PRICKLE1 gene (Tao et al., 2011). The NHLBI ESP Exome Variant Project has not identified Arg144His in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as both Arginine and Histidine are both positively charged amino acids. Arg144His alters a highly conserved position in the first LIM zinc-binding domain of the protein, and multiple in silico algorithms predict Arg144His may be damaging to protein structure/function. Therefore, currently available evidence suggests that Arg144His may be associated with myoclonic epilepsy, although the possibility that it is a benign variant cannot be completely excluded. The variant is found in EPILEPSY panel(s).
OMIM RCV000023707 SCV000044998 pathogenic Progressive myoclonus epilepsy with ataxia 2011-02-11 no assertion criteria provided literature only
GeneReviews RCV000023707 SCV000058217 pathologic Progressive myoclonus epilepsy with ataxia 2011-12-08 no assertion criteria provided curation Converted during submission to Pathogenic.

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