ClinVar Miner

Submissions for variant NM_005557.4(KRT16):c.395T>C (p.Leu132Pro)

dbSNP: rs60944949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057042 SCV000321825 pathogenic not provided 2019-04-23 criteria provided, single submitter clinical testing Located in a critical region intolerant to change encoding the helix initiation motif (1A); this region is highly conserved across all species and among all members of the keratin family and a known hotspot for pathogenic variants; Keratin gene variants altering residues at the ends of the central rod domain of keratin proteins (helix initiation and termination motifs) interfere with proper keratin intermediate filament assembly and function, thus resulting in hyperkeratosis and cell fragility (Chamcheu et al., 2011); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16250206, 29784039, 31823354, 7539673, 24611874, 19785597, 21430705, 22264670, 21601946, 24357266, 30859684, 28411774)
OMIM RCV000015704 SCV000035969 pathogenic Pachyonychia congenita 1 2005-10-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057042 SCV000088155 not provided not provided no assertion provided not provided

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