ClinVar Miner

Submissions for variant NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)

gnomAD frequency: 0.00428  dbSNP: rs146136907
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676814 SCV000978022 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001085440 SCV001115947 likely benign Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676814 SCV002585593 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing CA5A: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003918116 SCV004733195 likely benign CA5A-related condition 2020-09-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000676814 SCV000802624 uncertain significance not provided 2016-03-14 no assertion criteria provided clinical testing

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