Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001313313 | SCV001503805 | uncertain significance | HNSHA due to aldolase A deficiency | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 43 of the ALDOA protein (p.Arg43Gln). This variant is present in population databases (rs549146709, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1014562). 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 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. |
| Ambry Genetics | RCV003246869 | SCV003965168 | uncertain significance | Inborn genetic diseases | 2023-03-28 | criteria provided, single submitter | clinical testing | The c.128G>A (p.R43Q) alteration is located in exon 8 (coding exon 2) of the ALDOA gene. This alteration results from a G to A substitution at nucleotide position 128, causing the arginine (R) at amino acid position 43 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |