ClinVar Miner

Submissions for variant NM_001739.2(CA5A):c.615T>A (p.His205Gln)

gnomAD frequency: 0.00014  dbSNP: rs139816901
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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 RCV001928818 SCV002204991 uncertain significance Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 2021-08-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CA5A-related conditions. This variant is present in population databases (rs139816901, ExAC 0.01%). This sequence change replaces histidine with glutamine at codon 205 of the CA5A protein (p.His205Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine.
Ambry Genetics RCV003167256 SCV003864024 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.615T>A (p.H205Q) alteration is located in exon 5 (coding exon 5) of the CA5A gene. This alteration results from a T to A substitution at nucleotide position 615, causing the histidine (H) at amino acid position 205 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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