Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000480785 | SCV000574009 | uncertain significance | not provided | 2024-07-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
| Labcorp Genetics |
RCV000480785 | SCV002179341 | uncertain significance | not provided | 2024-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 229 of the ALPK3 protein (p.Gly229Asp). This variant is present in population databases (no rsID available, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with ALPK3-related conditions. ClinVar contains an entry for this variant (Variation ID: 424221). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 | RCV002367656 | SCV002665620 | uncertain significance | Cardiovascular phenotype | 2022-07-13 | criteria provided, single submitter | clinical testing | The c.686G>A (p.G229D) alteration is located in exon 1 (coding exon 1) of the ALPK3 gene. This alteration results from a G to A substitution at nucleotide position 686, causing the glycine (G) at amino acid position 229 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| ARUP Laboratories, |
RCV005230953 | SCV005876591 | uncertain significance | Cardiomyopathy, familial hypertrophic 27 | 2024-02-29 | criteria provided, single submitter | clinical testing | The ALPK3 c.80G>A; p.Gly27Asp variant (rs931782668), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 424221). This variant is found in the general population with an overall allele frequency of 0.03% (40/122,978 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.251). Due to limited information, the clinical significance of this variant is uncertain at this time. |