Submissions for variant NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter)

dbSNP: rs2107257487

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001939509	SCV002231935	pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	2021-11-18	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with PRKCD-related conditions. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp105*) in the PRKCD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRKCD are known to be pathogenic (PMID: 11976687, 23319571, 23430113).
GeneDx	RCV002269381	SCV002552824	uncertain significance	not provided	2022-01-13	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001939509	SCV005374415	uncertain significance	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	2024-09-22	criteria provided, single submitter	clinical testing