ClinVar Miner

Submissions for variant NM_001739.2(CA5A):c.555G>A (p.Lys185=) (rs147623570)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483966 SCV000568852 likely pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing The c.555G>A variant in the CA5A gene has been reported previously in the homozygous state in association with carbonic anhydrase VA deficiency (van Karnebeek et al., 2014). The c.555G>A variant is predicted to destroy the natural splice donor site in intron 4 and studies indicate it results in deletion of exon 4 that includes residues in the active site of the CA5A enzyme (van Karnebeek et al., 2014). In addition, functional studies of the c.555G>A variant demonstrated absent enzyme activity and altered thermal stability (van Karnebeek et al., 2014; Diez-Fernandez et al., 2016). The c.555G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.555G>A variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000114947 SCV000148851 pathogenic Carbonic anhydrase VA deficiency, hyperammonemia due to 2014-03-06 no assertion criteria provided literature only
GeneReviews RCV000114947 SCV000221287 pathogenic Carbonic anhydrase VA deficiency, hyperammonemia due to 2015-01-08 no assertion criteria provided literature only

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