Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001918816 | SCV002186489 | uncertain significance | Congenital myasthenic syndrome 15 | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 178 of the ALG14 protein (p.Val178Ile). This variant is present in population databases (rs373069354, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ALG14-related conditions. ClinVar contains an entry for this variant (Variation ID: 1411371). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 | RCV002556301 | SCV003695323 | uncertain significance | Inborn genetic diseases | 2021-08-04 | criteria provided, single submitter | clinical testing | The c.532G>A (p.V178I) alteration is located in exon 4 (coding exon 4) of the ALG14 gene. This alteration results from a G to A substitution at nucleotide position 532, causing the valine (V) at amino acid position 178 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV001918816 | SCV004049469 | uncertain significance | Congenital myasthenic syndrome 15 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003348616 | SCV004049470 | uncertain significance | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003348617 | SCV004049471 | uncertain significance | Myopathy, epilepsy, and progressive cerebral atrophy | 2023-04-11 | criteria provided, single submitter | clinical testing |