ClinVar Miner

Submissions for variant NM_006121.4(KRT1):c.591+1G>C

dbSNP: rs267607422
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000057098 SCV001249013 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003389393 SCV004101668 pathogenic Epidermolytic hyperkeratosis 1 2023-08-17 criteria provided, single submitter clinical testing The KRT1 c.591+1G>C variant results in a substitution at the consensus splice donor site and has been shown to cause an in-frame deletion of a portion of the highly conserved helix initiation motif of the alpha-helical rod domain through the use of a cryptic splice site. This region is critical for keratin intermediate filament assembly and function (PMID: 14708600). This variant has been observed in an individual with a phenotype consistent with epidermolytic ichthyosis (PMID: 14708600). Other variants affecting the same, or neighboring nucleotide have also been reported in individuals with a phenotype consistent with epidermolytic ichthyosis (PMID: 14708600; 12406346). This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.591+1G>C variant is classified as pathogenic for epidermolytic ichthyosis.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057098 SCV000088211 not provided not provided no assertion provided not provided

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