Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kariminejad - |
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, |
RCV000056760 | SCV000087873 | not provided | not provided | no assertion provided | not provided | ||
University of Washington Center for Mendelian Genomics, |
RCV001291416 | SCV001479917 | likely pathogenic | Sjögren-Larsson syndrome | no assertion criteria provided | research |