ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1144G>T (p.Glu382Ter)

gnomAD frequency: 0.00001  dbSNP: rs786205604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171441 SCV000221639 likely pathogenic not provided criteria provided, single submitter research
GeneDx RCV000171441 SCV000680506 pathogenic not provided 2017-01-13 criteria provided, single submitter clinical testing The E382X nonsense variant in the CHM gene has been reported previously in association with sporadic retinal dystrophy (Patel et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The 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. Therefore, we consider this variant to be pathogenic.

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