Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727658 | SCV000854962 | pathogenic | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | |
Department of Medical Genetics, |
RCV000043503 | SCV001451949 | pathogenic | CEDNIK syndrome | criteria provided, single submitter | research | ||
Gene |
RCV000727658 | SCV001796371 | pathogenic | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing | Frameshift 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; This variant is associated with the following publications: (PMID: 28388629, 21073448, 25958742, 33977139, 35568357, 31069529) |
Invitae | RCV000727658 | SCV004298833 | pathogenic | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser163Lysfs*6) in the SNAP29 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SNAP29 are known to be pathogenic (PMID: 15968592, 21073448). This variant is present in population databases (rs768735498, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (PMID: 21073448). This variant is also known as c.486insA. ClinVar contains an entry for this variant (Variation ID: 50295). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000043503 | SCV000067347 | pathogenic | CEDNIK syndrome | 2011-03-01 | no assertion criteria provided | literature only |