ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1912G>A (p.Ala638Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340855 SCV004047635 uncertain significance Familial hyperaldosteronism type II criteria provided, single submitter clinical testing The missense variant c.1912G>A (p.Ala638Thr) in CLCN2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This p.Ala638Thr variant has allele frequency of 0.0012% in the gnomAD and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Ala at position 638 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala638Thr in CLCN2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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