Submissions for variant NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs)

gnomAD frequency: 0.00001  dbSNP: rs780281715

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
3billion	RCV000845177	SCV002058861	pathogenic	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	2022-01-03	criteria provided, single submitter	clinical testing	Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000025, PM2_M). The variant has been reported to be associated with PRG4 related disorder (ClinVar ID: VCV000684670, PMID:29397575). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Yale Center for Mendelian Genomics, Yale University	RCV000845177	SCV000987113	pathogenic	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	2018-02-04	no assertion criteria provided	literature only
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV000845177	SCV002553183	pathogenic	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome		no assertion criteria provided	clinical testing