Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002047389 | SCV002117452 | uncertain significance | Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2022-08-21 | criteria provided, single submitter | clinical testing | The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_15548.4, and corresponds to NM_001723.5:c.*63134G>A in the primary transcript This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2847 of the DST protein (p.Ser2847Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DST-related conditions. 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 | RCV004038926 | SCV005038470 | uncertain significance | Inborn genetic diseases | 2021-06-08 | criteria provided, single submitter | clinical testing | The p.S3351N variant (also known as c.10052G>A), located in coding exon 55 of the DST gene, results from a G to A substitution at nucleotide position 10052. The serine at codon 3351 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and asparagine is the reference amino acid in other 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. |
| Prevention |
RCV004756298 | SCV005353840 | uncertain significance | DST-related disorder | 2024-08-31 | no assertion criteria provided | clinical testing | The DST c.10052G>A variant is predicted to result in the amino acid substitution p.Ser3351Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0097% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |