ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) (rs771584708)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188748 SCV000242372 uncertain significance not provided 2013-05-29 criteria provided, single submitter clinical testing p.Ser559Leu (TCA>TTA): c.1676 C>T in exon 8 of the PRICKLE1 gene (NM_153026.2). The Ser559Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a polar Serine residue is replaced by a non-polar Leucine residue. However, it alters a poorly conserved position in the protein. One in silico algorithm predicts it may be damaging to protein structure/function, while other models suggest it may be benign. Therefore, based on the currently available information, it is unclear whether Ser559Leu is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000278259 SCV000378697 uncertain significance Progressive myoclonus epilepsy with ataxia 2016-06-14 criteria provided, single submitter clinical testing

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