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

gnomAD frequency: 0.00001  dbSNP: rs372375423

Total submissions: 6

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
Labcorp Genetics (formerly Invitae), Labcorp	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
GeneDx	RCV001390248	SCV005628530	pathogenic	not provided	2024-07-18	criteria provided, single submitter	clinical testing	Nonsense 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; This variant is associated with the following publications: (PMID: 36399134)
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.