ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.500T>A (p.Ile167Asn)

dbSNP: rs57126929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004703204 SCV005201136 likely pathogenic Pachyonychia congenita 3 criteria provided, single submitter clinical testing In silico prediction tools (MutationTaster, CADD phred, and REVEL) are consistent in predicting the variant to be damaging to KRT6A protein function. This variant c.500T>A in heterozygous state, was reported in a similarly affected individual earlier (Smith, et al. 2005).
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057004 SCV000088117 not provided not provided no assertion provided not provided

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