Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001243563 | SCV001416731 | uncertain significance | Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2022-09-01 | criteria provided, single submitter | clinical testing | The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*133445G>A in the primary transcript This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 4547 of the DST protein (p.Arg4547Gln). This variant is present in population databases (rs201690182, 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: 968433). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 | RCV002393634 | SCV002704774 | uncertain significance | Inborn genetic diseases | 2022-09-02 | criteria provided, single submitter | clinical testing | The p.R5051Q variant (also known as c.15152G>A), located in coding exon 84 of the DST gene, results from a G to A substitution at nucleotide position 15152. The arginine at codon 5051 is replaced by glutamine, 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. |
Mayo Clinic Laboratories, |
RCV004793347 | SCV005407853 | uncertain significance | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | BP4 |