ClinVar Miner

Submissions for variant NC_000016.10:g.(?_87904766)_(87904924_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032878 SCV001196185 pathogenic Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 2019-11-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CA5A are known to be pathogenic (PMID: 24530203, 26913920). This variant has not been reported in the literature in individuals with CA5A-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the CA5A gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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