ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.92del (p.Ile31fs)

gnomAD frequency: 0.00001  dbSNP: rs60231560
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814040 SCV001755605 pathogenic Abnormality of the skin 2021-07-10 criteria provided, single submitter clinical testing
Invitae RCV000056760 SCV002243895 pathogenic not provided 2021-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile31Thrfs*87) in the KRT14 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KRT14 are known to be pathogenic (PMID: 16614722, 27283507, 29130490). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This premature translational stop signal has been observed in individuals with epidermolysis bullosa simplex (PMID: 10971341, 28830826). ClinVar contains an entry for this variant (Variation ID: 66385). For these reasons, this variant has been classified as Pathogenic.
3billion RCV000015729 SCV002318802 pathogenic Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. This variant has been reported as pathogenic (ClinVar ID: VCV000066385, PMID:10971341, 3billion dataset).It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000104). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000015729 SCV000035994 pathogenic Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 2000-09-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056760 SCV000087873 not provided not provided no assertion provided not provided
University of Washington Center for Mendelian Genomics, University of Washington RCV001291416 SCV001479917 likely pathogenic Sjögren-Larsson syndrome no assertion criteria provided research

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