ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1609+2T>A

dbSNP: rs1556217900
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520979 SCV000617969 pathogenic not provided 2016-01-15 criteria provided, single submitter clinical testing The c.1609+2 T>A splice site variant in the CHM gene destroys the canonical splice donor site in intron 13. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1609+2 T>A 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.

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