Submissions for variant NM_019023.5(PRMT7):c.1951TTC[1] (p.Phe652del)

dbSNP: rs562766169

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000883997	SCV001027347	likely benign	not provided	2024-10-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000883997	SCV004170486	uncertain significance	not provided	2023-10-14	criteria provided, single submitter	clinical testing	In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Genetic Services Laboratory, University of Chicago	RCV003151177	SCV003839927	uncertain significance	not specified	2022-09-03	no assertion criteria provided	clinical testing	DNA sequence analysis of the PRMT7 demonstrated a 3 base pair deletion in exon 19, c.1954_1956del. This in-frame deletion is predicted to result in the deletion of one amino acid residue, p.Phe652del. This deletion does not appear to have been previously described in individuals with PRMT7 -related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.28% in the Latino subpopulation (dbSNP rs562766169). The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.
PreventionGenetics, part of Exact Sciences	RCV003930605	SCV004739569	likely benign	PRMT7-related disorder	2022-04-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).