ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.720_723del (p.Val241fs)

dbSNP: rs751937099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009113 SCV001168924 pathogenic not provided 2018-11-14 criteria provided, single submitter clinical testing The c.720_723delTGTC variant in the CYP4F22 gene has been reported previously in the presence of another CYP4F22 frameshift variant in an individual with autosomal recessive congenital ichthyosis (Hotz et al., 2018). The c.720_723delTGTC variant causes a frameshift starting with codon Valine 241, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 128 of the new reading frame, denoted p.Val241GlyfsX128. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.720_723delTGTC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.720_723delTGTC as a pathogenic variant.
Institute for Human Genetics, University Medical Center Freiburg RCV000678408 SCV000804479 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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