ClinVar Miner

Submissions for variant NM_002273.4(KRT8):c.160T>C (p.Tyr54His)

gnomAD frequency: 0.00715  dbSNP: rs57749775
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988859 SCV001138751 benign Hepatitis C virus, susceptibility to 2023-08-22 criteria provided, single submitter clinical testing
H3Africa Consortium RCV001777139 SCV002014642 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.051, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
OMIM RCV000015737 SCV000036002 uncertain significance Cirrhosis, cryptogenic 2001-05-24 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056936 SCV000088049 not provided not provided no assertion provided not provided
Reproductive Health Research and Development, BGI Genomics RCV000015737 SCV001142432 risk factor Cirrhosis, cryptogenic 2020-01-06 no assertion criteria provided curation NM_002273.3:c.160T>C in the KRT8 gene has an allele frequency of 0.022 in African subpopulation in the gnomAD database. Two patients with liver disease or noncryptogenic chronic or acute liver disease were found to have this variant (PMID: 11372009). The author proposed that mutations in the keratin 8 gene may predispose people to liver disease (PMID: 11372009; PMID: 12724528). Taken together, we interprete this variant as risk factor variant.

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