ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.820-2A>G (rs1556307713)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521080 SCV000617658 pathogenic not provided 2018-06-15 criteria provided, single submitter clinical testing The c.820-2 A>G splice site variant in the CHM gene has been previously reported in association with choroideremia (Esposito et al., 2011). This pathogenic variant destroys the canonical splice acceptor site in intron 7. mRNA studies demonstrated that the presence of the c.820-2 A>G variant results in the skipping of exon 7 and in vitro transcription/translation studies also showed that the resulting protein is truncated (Esposito et al., 2011). The c.820-2 A>G 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
Mendelics RCV000990895 SCV001141948 pathogenic Choroideremia 2019-05-28 criteria provided, single submitter clinical testing

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