ClinVar Miner

Submissions for variant NM_001723.7(DST):c.7162del (p.Ser2388fs)

dbSNP: rs758701051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538922 SCV000654556 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2388Leufs*5) in the DST gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 262 amino acid(s) of the DST protein. This variant is present in population databases (rs758701051, gnomAD 0.1%). 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: 474549). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004698840 SCV005200926 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing PM2

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