Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000003486 | SCV001220651 | pathogenic | Duane-radial ray syndrome | 2022-12-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg865*) in the SALL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SALL4 are known to be pathogenic (PMID: 15342710, 16086360). This premature translational stop signal has been observed in individual(s) with Duane-radial ray syndrome (PMID: 12395297). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3322). |
Gene |
RCV001553330 | SCV001774183 | likely pathogenic | not provided | 2019-11-06 | 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 843249, 20301547, 12395297, 25525159, 11826030, 12843316) |
OMIM | RCV000003486 | SCV000023644 | pathogenic | Duane-radial ray syndrome | 2002-11-01 | no assertion criteria provided | literature only |