ClinVar Miner

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

gnomAD frequency: 0.00011  dbSNP: rs147623570
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Total submissions: 4
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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)
Invitae 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

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