ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs199892192
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Total submissions: 2
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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.
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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