ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.5329G>A (p.Val1777Ile) (rs142777778)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000242005 SCV000535416 uncertain significance not specified 2017-01-16 criteria provided, single submitter clinical testing The V1777I variant in the C5orf42 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports V1777I was observed in 64/4,406 alleles (1.45%) from individuals of African American background, indicating it may be a rare variant in this population. In addition, the V1777I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret V1777I as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000343798 SCV000457388 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000646718 SCV000768497 benign Orofaciodigital syndrome 6; Joubert syndrome 17 2017-10-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242005 SCV000314195 benign not specified criteria provided, single submitter clinical testing

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