ClinVar Miner

Submissions for variant NM_005557.4(KRT16):c.386_388CCT[1] (p.Ser130del) (rs58181827)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057041 SCV000321797 pathogenic not provided 2015-12-14 criteria provided, single submitter clinical testing The c.389_391delCCT pathogenic variant in the KRT16 gene results in an in-frame deletion of a single Serine residue. The deletion has been previously published in association with pachyonychia congenita type 1 (Smith et al., 1999). The 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 population. The deleted Serine residue is located at a position within the Coil1A region of the KRT16 protein that is a hotpot for pathogenic variants.
OMIM RCV000015707 SCV000035972 pathogenic Pachyonychia congenita 1 1999-10-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057041 SCV000088154 not provided not provided no assertion provided not provided

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