ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.4390C>T (p.Arg1464Trp)

gnomAD frequency: 0.00010  dbSNP: rs200316560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262647 SCV000464291 uncertain significance Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000792538 SCV000931842 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 replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 927 of the DST protein (p.Arg927Trp). This variant is present in population databases (rs200316560, gnomAD 0.008%). 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: 357597). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509270 SCV001715888 uncertain significance not provided 2020-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328872 SCV002626680 uncertain significance Inborn genetic diseases 2020-10-13 criteria provided, single submitter clinical testing The p.R1431W variant (also known as c.4291C>T), located in coding exon 31 of the DST gene, results from a C to T substitution at nucleotide position 4291. The arginine at codon 1431 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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