Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818547 | SCV000959166 | uncertain significance | Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity | 2022-07-23 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 114 of the B3GALT6 protein (p.Ala114Glu). 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 B3GALT6-related conditions. ClinVar contains an entry for this variant (Variation ID: 661179). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Ce |
RCV001093298 | SCV001250211 | uncertain significance | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537434 | SCV003642474 | uncertain significance | Inborn genetic diseases | 2022-08-11 | criteria provided, single submitter | clinical testing | The c.341C>A (p.A114E) alteration is located in exon 1 (coding exon 1) of the B3GALT6 gene. This alteration results from a C to A substitution at nucleotide position 341, causing the alanine (A) at amino acid position 114 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |