ClinVar Miner

Submissions for variant NM_002273.4(KRT8):c.187A>G (p.Ile63Val)

gnomAD frequency: 0.00302  dbSNP: rs59536457
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612895 SCV000730579 likely benign not specified 2017-11-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000988858 SCV001138750 benign Hepatitis C virus, susceptibility to 2019-05-28 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258260 SCV001435175 likely benign Inflammatory bowel disease criteria provided, single submitter research The heterozygous p.Ile63Val variant, sometimes called p.Ile91Val due to a difference in cDNA numbering, in KRT8 has been identified in an individual with inflammatory bowel disease (PMID: 15090596), but has also been identified in >1% of South Asian chromosomes and 4 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for inflammatory bowel disease.
Breakthrough Genomics, Breakthrough Genomics RCV000056939 SCV005213198 likely benign not provided criteria provided, single submitter not provided
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056939 SCV000088052 not provided not provided no assertion provided not provided

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