ClinVar Miner

Submissions for variant NM_006121.4(KRT1):c.532T>C (p.Ser178Pro)

dbSNP: rs1941559064
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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 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.
GeneDx RCV004719125 SCV005326163 likely pathogenic not provided 2023-12-28 criteria provided, single submitter clinical testing Reported as a potentially more severe phenotype in comparison to the phenotype seen with a nearby variant (p.K177N); clinical information for the p.S178P variant not provided (PMID: 14708600); Located within the head domain, a region intolerant to change; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31046801, 14708600)

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