ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.5108G>A (p.Gly1703Asp)

gnomAD frequency: 0.00002  dbSNP: rs1239606869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971239 SCV002260192 uncertain significance not provided 2024-12-08 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 1905 of the ALPK3 protein (p.Gly1905Asp). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 1474391). 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 RCV002344148 SCV002650129 uncertain significance Cardiovascular phenotype 2022-06-03 criteria provided, single submitter clinical testing The p.G1905D variant (also known as c.5714G>A), located in coding exon 14 of the ALPK3 gene, results from a G to A substitution at nucleotide position 5714. The glycine at codon 1905 is replaced by aspartic acid, an amino acid with similar properties. This variant has been detected in a an individual reported to have hypertrophic cardiomyopathy from a cardiomyopathy/arrhythmia genetic testing cohort; however, clinical details were limited (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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