ClinVar Miner

Submissions for variant NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys)

dbSNP: rs267607473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057022 SCV000321845 pathogenic not provided 2015-08-13 criteria provided, single submitter clinical testing The E461K variant in the KRT6B gene has been reported in association with pachyonychia congenita (Wilson et al., 2011). The E461K variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E461K variant is a non-conservative amino acid substitution that occurs at a position that is conserved across species. In silico analysis predicts this substitution is probably damaging to the protein structure/function.
Fulgent Genetics, Fulgent Genetics RCV002483085 SCV002794003 likely pathogenic Pachyonychia congenita 4 2021-09-17 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057022 SCV000088135 not provided not provided no assertion provided not provided

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