ClinVar Miner

Submissions for variant NM_001739.2(CA5A):c.645C>T (p.Phe215=)

gnomAD frequency: 0.01677  dbSNP: rs149154082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422290 SCV000522572 benign not specified 2016-09-02 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 RCV001522109 SCV001731587 benign Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912673 SCV004734193 benign CA5A-related condition 2019-09-13 criteria provided, single submitter 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000676815 SCV000802625 benign not provided 2016-02-26 no assertion criteria provided clinical testing

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