Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483966 | SCV000568852 | likely pathogenic | not provided | 2021-10-16 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect (van Karnebeek et al., 2014; Diez-Fernandez et al., 2016); This variant is associated with the following publications: (PMID: 26913920, 24530203, 25834911) |
Labcorp Genetics |
RCV000114947 | SCV002194604 | uncertain significance | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change affects codon 185 of the CA5A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CA5A protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs147623570, gnomAD 0.03%). This variant has been observed in individual(s) with carbonic anhydrase VA deficiency (PMID: 24530203). ClinVar contains an entry for this variant (Variation ID: 127088). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 4, but is expected to preserve the integrity of the reading-frame (PMID: 24530203). 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. |
OMIM | RCV000114947 | SCV000148851 | pathogenic | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 2014-03-06 | no assertion criteria provided | literature only | |
Gene |
RCV000114947 | SCV000221287 | not provided | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | no assertion provided | literature only |