Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255175 | SCV000321315 | pathogenic | not provided | 2019-08-06 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30916489, 25525159, 19664001, 29880184) |
Invitae | RCV000255175 | SCV003524975 | pathogenic | not provided | 2023-02-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg287*) in the ABCA12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA12 are known to be pathogenic (PMID: 20672373). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with congenital ichthyosis (PMID: 19664001, 29880184). ClinVar contains an entry for this variant (Variation ID: 264999). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000056334 | SCV000087503 | pathogenic | Autosomal recessive congenital ichthyosis 4B | 2009-10-01 | no assertion criteria provided | literature only | |
Foundation for Research in Genetics and Endocrinology, |
RCV000678039 | SCV000803667 | likely pathogenic | Autosomal recessive congenital ichthyosis 4A | 2018-08-13 | no assertion criteria provided | clinical testing | The observed variant c.859C>T (p.Arg287Ter) has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is disease causing by MutationTaster2. |