ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu)

gnomAD frequency: 0.00001  dbSNP: rs200171609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188754 SCV000242378 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PRICKLE1 gene. The Q630E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant 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 but the 1000 Genomes Project reports Q630E was observed in 1/162 (0.5%) alleles from individuals of Punjabi background. The Q630E variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000375035 SCV000551472 likely benign Epilepsy, progressive myoclonic, 1B 2024-01-02 criteria provided, single submitter clinical testing

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