ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.1456G>A (p.Asp486Asn) (rs374411782)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724006 SCV000225414 uncertain significance not provided 2014-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000724006 SCV000527463 uncertain significance not provided 2016-05-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the C5orf42 gene. The D486N variant has not been publishedas a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D486N variant was notobserved with any significant frequency in approximately 2,300 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project or in the 1000 Genomes Project. The D486N variant is asemi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ insome properties. However, this substitution occurs at a position that is not conserved. In silico analysis predicts thisvariant likely does not alter the protein structure/function. Therefore, based on the currently available information, it isunclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000325656 SCV000457419 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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