ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.59dup (p.Ile21fs)

gnomAD frequency: 0.00011  dbSNP: rs531800013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000310049 SCV000329330 pathogenic not provided 2019-12-09 criteria provided, single submitter clinical testing Identified in additional unrelated patients with congenital ichthyosis in the published literature (Pigg et al., 2016; Sitek et al., 2018); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31046801, 27025581, 25998749, 29444371, 31168818, 31589614)
CeGaT Center for Human Genetics Tuebingen RCV000310049 SCV001246160 pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
Invitae RCV000310049 SCV002229335 pathogenic not provided 2022-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 279799). This premature translational stop signal has been observed in individuals with autosomal recessive congenital ichthyosis (PMID: 25998749, 27025581). This variant is present in population databases (rs531800013, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Ile21Hisfs*59) in the CYP4F22 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP4F22 are known to be pathogenic (PMID: 16436457, 24397709, 26762237).
Institute for Human Genetics, University Medical Center Freiburg RCV000678425 SCV000804499 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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