Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529255 | SCV000637461 | pathogenic | Duane-radial ray syndrome | 2017-01-04 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 2 of the SALL4 mRNA (c.563delG), causing a frameshift at codon 188. This creates a premature translational stop signal (p.Gly188Alafs*6) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in SALL4 are known to be pathogenic (PMID: 12789647). |