ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.4227A>C (p.Glu1409Asp)

gnomAD frequency: 0.00003  dbSNP: rs777359107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350522 SCV001544927 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-02-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 872 of the DST protein (p.Glu872Asp). This variant is present in population databases (rs777359107, gnomAD 0.006%). 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: 1046018). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002329343 SCV002628533 uncertain significance Inborn genetic diseases 2020-02-24 criteria provided, single submitter clinical testing The p.E1376D variant (also known as c.4128A>C), located in coding exon 30 of the DST gene, results from an A to C substitution at nucleotide position 4128. The glutamic acid at codon 1376 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004779092 SCV005392545 uncertain significance not provided 2024-05-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported using the transcript encoding the epithelial isoform of the gene

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