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: 5
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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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522109 SCV001731587 benign Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676815 SCV005249618 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676815 SCV000802625 benign not provided 2016-02-26 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003912673 SCV004734193 benign CA5A-related disorder 2019-09-13 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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