Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003804394 | SCV004596069 | pathogenic | Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2023-05-15 | criteria provided, single submitter | clinical testing | The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*61967_*61968insA in the primary transcript. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DST-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn2458Lysfs*18) in the DST gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DST are known to be pathogenic (PMID: 22522446, 25059916, 30371979). |