ClinVar Miner

Submissions for variant NM_001031711.3(ERGIC1):c.155+1G>A

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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 RCV004771763 SCV005382495 uncertain significance Arthrogryposis multiplex congenita 2, neurogenic type 2023-05-20 criteria provided, single submitter clinical testing The observed splice donor variant c.155+1G>A in the ERGIC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.004% in the gnomAD Exomes. The variant affects the GT donor splice site downstream of exon 3. Loss of function variants in this gene have not been previously reported to be disease causing. Additional studies are required to prove the pathogenicity of the variant. For these reasons, this variant has been classified as Uncertain significance.

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