ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.32G>C (p.Arg11Pro)

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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 RCV003448739 SCV004176406 uncertain significance Lymphatic malformation 3 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.32G>C (p.Arg11Pro) in the GJC2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Arginine at position 11 is changed to a Proline changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Arg11Pro in GJC2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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