ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) (rs116198390)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764605 SCV000895703 uncertain significance Orofaciodigital syndrome 6; Joubert syndrome 17 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000426156 SCV000526451 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the C5orf42 gene. The R2952G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R2952G variant is observed in 83/126482 (0.1%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). The R2952G 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.A second pathogenic variant, as expected for an autosomal recessive disorder, was not detected in this individual by sequencing or deletion/duplication analysis of C5orf42. The possibility that this patient harbors a second C5orf42 pathogenic variant that is undetectable by this test cannot be excluded. The finding of a single variant of uncertain clinical significance makes the molecular diagnosis inconclusive, and clinical findings should also be considered in the diagnosis of this patient.
Illumina Clinical Services Laboratory,Illumina RCV000263974 SCV000457338 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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