ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.18047A>G (p.Asp6016Gly)

gnomAD frequency: 0.00001  dbSNP: rs1444942164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625439 SCV000745356 uncertain significance Hereditary sensory and autonomic neuropathy type 6 2017-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001347780 SCV001542055 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-03-31 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 522339). This variant has not been reported in the literature in individuals affected with DST-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3393 of the DST protein (p.Asp3393Gly). The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*89074A>G in the primary transcript.
Clinical Genetics, Academic Medical Center RCV001700278 SCV001925997 uncertain significance not provided no assertion criteria provided clinical testing

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