ClinVar Miner

Submissions for variant NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003447905 SCV004175868 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 1 2023-03-01 criteria provided, single submitter clinical testing The start lost variant c.2T>G(p.Met1?) in CCBE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The p.Met1? variant is predicted to disrupt the initiation codon, and thus potentially may interfere with protein expression. The variant is predicted to be damaging by SIFT. For these reasons, this variant has been classified as Uncertain Significance.
Neuberg Centre For Genomic Medicine, NCGM RCV003447906 SCV004175869 uncertain significance Renal tubular acidosis, distal, 4, with hemolytic anemia 2023-03-01 criteria provided, single submitter clinical testing The start lost variant c.2T>G(p.Met1?) in CCBE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The p.Met1? variant is predicted to disrupt the initiation codon, and thus potentially may interfere with protein expression. The variant is predicted to be damaging by SIFT. For these reasons, this variant has been classified as Uncertain Significance.

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