ClinVar Miner

Submissions for variant NM_001739.2(CA5A):c.619-3421_774+502del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000114948 SCV000148852 pathogenic Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 2014-03-06 no assertion criteria provided literature only
GeneReviews RCV000114948 SCV000221288 not provided Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency no assertion provided literature only The phenotype was not more severe in persons homozygous for this deletion (resulting in absence of carbonic anhydrase VA in the liver) than the phenotype observed w/other variants.

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