ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) (rs150545495)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716487 SCV000847328 likely benign Seizures 2016-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000188732 SCV000614767 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725954 SCV000340795 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000725954 SCV000242356 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PRICKLE1 gene. The P802S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P802S variant is observed in 45/10,406 (0.4%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P802S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and Serine is observed at this position in another species. Additionally, in silico analysis predicts this variant likely does not alter 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.
Illumina Clinical Services Laboratory,Illumina RCV000306724 SCV000378689 uncertain significance Progressive myoclonus epilepsy with ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000306724 SCV000561672 likely benign Progressive myoclonus epilepsy with ataxia 2017-11-22 criteria provided, single submitter clinical testing

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