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NM_000289.6(PFKM):c.2003del (p.Pro668fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 31, 2020
Accession:
VCV000632192.7
Variation ID:
632192
Description:
1bp deletion
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NM_000289.6(PFKM):c.2003del (p.Pro668fs)

Allele ID
620443
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 48145039 (GRCh38) GRCh38 UCSC
12: 48538822 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1177:g.44789del
NM_000289.5:c.2003del
NC_000012.11:g.48538824del
... more HGVS
Protein change
P618fs, P676fs, P626fs, P739fs, P637fs, P639fs, P668fs, P716fs, P771fs
Other names
-
Canonical SPDI
NC_000012.12:48145038:CCC:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 610681.0010
dbSNP: rs767095759
VarSome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 31, 2020 RCV000779105.6
Pathogenic 1 criteria provided, single submitter Jul 17, 2018 RCV000826149.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PFKM - - GRCh38
GRCh37
328 341

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 11, 2018)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease, type VII
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915597.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The PFKM c.2003delC (p.Pro668GlnfsTer17) variant results in a frameshift and is predicted to result in premature termination of the protein. The p.Pro668GlnfsTer17 variant has been … (more)
Pathogenic
(Jul 17, 2018)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967680.1
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The p.Pro739GlnfsX17 variant in PFKM has been reported in 5 Ashkenazi Jewish ind ividuals with glycogen storage disease type 7 in the homozygous or compound … (more)
Pathogenic
(Oct 31, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease, type VII
Allele origin: germline
Invitae
Accession: SCV000945851.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Pro668Glnfs*17) in the PFKM gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Dec 01, 1997)
no assertion criteria provided
Method: literature only
GLYCOGEN STORAGE DISEASE VII
Allele origin: germline
OMIM
Accession: SCV000021369.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type VII
Allele origin: germline
Natera, Inc.
Accession: SCV001458713.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. Ristow M The Journal of clinical investigation 1997 PMID: 9389749
Muscle phosphofructokinase deficiency in two generations. Vorgerd M Journal of the neurological sciences 1996 PMID: 8880699
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. Raben N American journal of human genetics 1995 PMID: 7825568
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. Sherman JB American journal of human genetics 1994 PMID: 8037209

Text-mined citations for rs767095759...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021