Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001270734 | SCV001451482 | likely pathogenic | Annular epidermolytic ichthyosis | 2020-05-22 | criteria provided, single submitter | clinical testing | The KRT1 c.532T>C (p.Ser178Pro) variant is a missense variant that has been reported in a heterozygous state in at least one individual with epidermolytic hyperkeratosis (Borská et al. 2019). Variants at adjacent amino acid residues, including p.Lys177Asn and p.Arg179Pro, have also been identified in a heterozygous state in patients with hyperkeratosis (Yang et al. 1996; Virtanen et al. 2003). Control data are unavailable for the p.Ser178Pro variant, which is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the evidence and application of the ACMG criteria, the p.Ser178Pro variant is classified as likely pathogenic for epidermolytic ichthyosis. |