ClinVar Miner

Submissions for variant NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs)

dbSNP: rs1567721991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron RCV000681525 SCV000700090 pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome 2018-03-21 criteria provided, single submitter clinical testing The c.1239_1246dup results in the duplication of 8 nucleotides causing a frame shift at codon 416, that predicts the apparition of a premature stop codon at position 442, which predicts a truncated protein 251 amino acids shorter than the wild type. This variant was detected in an affected individual, that had also the pathogenic variant c.431_432del, p.(Glu144Valfs*3).
GeneDx RCV004721492 SCV005327568 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30006058)

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