Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002806115 | SCV003031664 | uncertain significance | Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity | 2022-07-15 | criteria provided, single submitter | clinical testing | 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"). This variant has not been reported in the literature in individuals affected with B3GALT6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 152 of the B3GALT6 protein (p.Val152Ala). |
| Ambry Genetics | RCV003274037 | SCV003961851 | uncertain significance | Inborn genetic diseases | 2023-03-17 | criteria provided, single submitter | clinical testing | The c.455T>C (p.V152A) alteration is located in exon 1 (coding exon 1) of the B3GALT6 gene. This alteration results from a T to C substitution at nucleotide position 455, causing the valine (V) at amino acid position 152 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |