ClinVar Miner

Submissions for variant NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)

gnomAD frequency: 0.00001  dbSNP: rs372375423
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000709800 SCV001428511 likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome 2018-09-11 criteria provided, single submitter clinical testing This variant was identified as homozygous
Invitae RCV001390248 SCV001591924 pathogenic not provided 2023-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 585047). This variant has not been reported in the literature in individuals affected with PRMT7-related conditions. This variant is present in population databases (rs372375423, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg274*) in the PRMT7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRMT7 are known to be pathogenic (PMID: 26437029, 27718516).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001390248 SCV002011540 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
New York Genome Center RCV000709800 SCV002506852 likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome 2021-05-27 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709800 SCV000840128 not provided Short stature-brachydactyly-obesity-global developmental delay syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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