ClinVar Miner

Submissions for variant NM_019023.5(PRMT7):c.1335_1338dup (p.His447Ter)

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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 RCV002510670 SCV002820175 likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome criteria provided, single submitter clinical testing This variant has not been reported previously in affected individuals. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is expected to cause protein truncation due to termination. Loss of function variants have been reported previously to be disease causing in PRMT7.This variant is classified as likely pathogenic as per ACMG guidelines.

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