Submissions for variant NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)

dbSNP: rs121918195

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000001217	SCV000939194	pathogenic	Glycogen storage disease, type VII	2023-05-18	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 1158). This premature translational stop signal has been observed in individual(s) with glycogen storage disease type VII (PMID: 7479776). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg95*) in the PFKM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PFKM are known to be pathogenic (PMID: 7825568, 8037209). For these reasons, this variant has been classified as Pathogenic.
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	RCV000001217	SCV001251486	likely pathogenic	Glycogen storage disease, type VII		criteria provided, single submitter	research	The PFKM c.496C>T (p.R166*) nonsense variant is predicted to result in an absent or aberrant protein. This variant was previously reported in the homozygous state in one mother and in her two daughters affected with glycogen storage disease type VII (PMID: 7479776).
Baylor Genetics	RCV000001217	SCV004203955	pathogenic	Glycogen storage disease, type VII	2024-01-09	criteria provided, single submitter	clinical testing
OMIM	RCV000001217	SCV000021367	pathogenic	Glycogen storage disease, type VII	1995-10-24	no assertion criteria provided	literature only