ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.4793G>A (p.Arg1598Gln)

gnomAD frequency: 0.00010  dbSNP: rs369264011
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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 RCV001222880 SCV001395002 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1061 of the DST protein (p.Arg1061Gln). This variant is present in population databases (rs369264011, gnomAD 0.02%). 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: 951049). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV002339591 SCV002636371 uncertain significance Inborn genetic diseases 2022-01-11 criteria provided, single submitter clinical testing The p.R1565Q variant (also known as c.4694G>A), located in coding exon 34 of the DST gene, results from a G to A substitution at nucleotide position 4694. The arginine at codon 1565 is replaced by glutamine, 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 RCV004778010 SCV005392394 uncertain significance not provided 2024-04-29 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

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