ClinVar Miner

Submissions for variant NM_001723.7(DST):c.4720C>T (p.Gln1574Ter)

gnomAD frequency: 0.00004  dbSNP: rs1277472105
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051217 SCV001215360 pathogenic Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2023-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1574*) 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DST-related conditions. ClinVar contains an entry for this variant (Variation ID: 847629). For these reasons, this variant has been classified as Pathogenic.

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