ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.5593A>C (p.Asn1865His) (rs199524299)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000386853 SCV000457383 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000424907 SCV000527029 uncertain significance not provided 2016-04-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the C5orf42 gene. The N1865H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N1865H variant was not observed with any significant frequency in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The N1865H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved. 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.

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