Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV000240822 | SCV002019178 | uncertain significance | Peeling skin syndrome 5 | 2023-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002518554 | SCV003248296 | uncertain significance | not provided | 2021-07-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg284*) in the SERPINB8 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 91 amino acid(s) of the SERPINB8 protein. This variant is present in population databases (rs144666367, ExAC 0.09%). This premature translational stop signal has been observed in individual(s) with exfoliative ichthyosis (PMID: 27476651). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 254200). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
OMIM | RCV000240822 | SCV000299323 | pathogenic | Peeling skin syndrome 5 | 2016-09-13 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000240822 | SCV001142483 | likely pathogenic | Peeling skin syndrome 5 | 2020-01-06 | no assertion criteria provided | curation | NM_002640.3:c.850C>T in the SERPINB8 gene has an allele frequency of 0.012 in Ashkenazi Jewish subpopulation in the gnomAD database. This variant is located in the last exon and may not lead to nonsense-mediated mRNA decay. It was detected in individual with autosomal recessive Peeling skin syndrome 5 in a pedigree, three homozygous c.850C>T, five carriers. And their parents are carriers (PMID: 27476651). The patient's phenotype is highly specific for SERPINB8 gene(PMID: 27476651). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP criteria applied: PM3_Supporting; PP4; PP1_Strong. |