ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter)

gnomAD frequency: 0.00014  dbSNP: rs199892192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000678421 SCV000411032 uncertain significance Autosomal recessive congenital ichthyosis 5 2017-04-27 criteria provided, single submitter clinical testing The CYP4F22 c.667C>T (p.Gln223Ter) variant is a stop-gained variant and has been reported in a single study in a homozygous state in one individual with congenital ichthyosis (Hellstrom Pigg et al. 2016). Control data are not available for the p.Gln223Ter variant which is reported at a frequency of 0.00121 in the European (non-Finnish) population of the Exome Aggregation Consortium. Due to the potential impact of stop-gained variants and evidence from the literature, the p.Gln223Ter variant is classified as a variant of unknown significance, but suspicious for pathogenicity for congenital ichthyosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Breakthrough Genomics, Breakthrough Genomics RCV004694424 SCV005195356 uncertain significance not provided criteria provided, single submitter not provided
Institute for Human Genetics, University Medical Center Freiburg RCV000678421 SCV000804492 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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