Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001316605 | SCV001507236 | uncertain significance | Congenital myasthenic syndrome 15 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with glycine at codon 178 of the ALG14 protein (p.Val178Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ALG14-related conditions. 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 disruptive. 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 | RCV004034399 | SCV004889705 | uncertain significance | Inborn genetic diseases | 2024-01-02 | criteria provided, single submitter | clinical testing | The c.533T>G (p.V178G) alteration is located in exon 4 (coding exon 4) of the ALG14 gene. This alteration results from a T to G substitution at nucleotide position 533, causing the valine (V) at amino acid position 178 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |