Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004673649 | SCV005160007 | uncertain significance | not specified | 2024-04-22 | criteria provided, single submitter | clinical testing | The c.1096G>A (p.G366R) alteration is located in exon 7 (coding exon 6) of the SERPINB6 gene. This alteration results from a G to A substitution at nucleotide position 1096, causing the glycine (G) at amino acid position 366 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV002226024 | SCV003250660 | uncertain significance | not provided | 2022-06-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 366 of the SERPINB6 protein (p.Gly366Arg). This variant is present in population databases (rs765798757, gnomAD 0.01%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1678710). This variant has not been reported in the literature in individuals affected with SERPINB6-related conditions. |
| Fulgent Genetics, |
RCV002487029 | SCV002781166 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 91 | 2021-07-08 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV002226024 | SCV002504005 | uncertain significance | not provided | 2025-08-22 | criteria provided, single submitter | clinical testing | In silico analysis suggests that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |