ClinVar Miner

Submissions for variant NM_001739.2(CA5A):c.668C>A (p.Thr223Asn)

gnomAD frequency: 0.00004  dbSNP: rs144744608
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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 RCV001952262 SCV002193478 uncertain significance Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 2021-04-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 223 of the CA5A protein (p.Thr223Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs144744608, ExAC 0.02%). This variant has not been reported in the literature in individuals with CA5A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV003167216 SCV003904859 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.668C>A (p.T223N) alteration is located in exon 6 (coding exon 6) of the CA5A gene. This alteration results from a C to A substitution at nucleotide position 668, causing the threonine (T) at amino acid position 223 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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