ClinVar Miner

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

dbSNP: rs121918195
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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

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