ClinVar Miner

Submissions for variant NM_001739.2(CA5A):c.172G>A (p.Val58Met)

gnomAD frequency: 0.00036  dbSNP: rs200539625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002550567 SCV001129751 benign Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 2023-10-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002550567 SCV003830256 uncertain significance Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 2021-06-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906110 SCV004724803 benign CA5A-related disorder 2019-11-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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