ClinVar Miner

Submissions for variant NM_001739.2(CA5A):c.555G>A (p.Lys185=)

gnomAD frequency: 0.00011  dbSNP: rs147623570
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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 (formerly Invitae), Labcorp 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
GeneReviews RCV000114947 SCV000221287 not provided Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency no assertion provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.