ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)

gnomAD frequency: 0.00095  dbSNP: rs199628430
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Total submissions: 6
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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 RCV000625438 SCV000745355 uncertain significance Hereditary sensory and autonomic neuropathy type 6 2016-05-02 criteria provided, single submitter clinical testing
Invitae RCV000801103 SCV000940862 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395638 SCV002699210 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The p.N4694S variant (also known as c.14081A>G), located in coding exon 78 of the DST gene, results from an A to G substitution at nucleotide position 14081. The asparagine at codon 4694 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003905674 SCV004724067 likely benign DST-related disorder 2023-06-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529345 SCV001742626 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001529345 SCV001923576 uncertain significance not provided no assertion criteria provided clinical testing

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