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NM_000466.3(PEX1):c.2034_2035del (p.His678fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 11, 2020
Accession:
VCV000371692.3
Variation ID:
371692
Description:
2bp microsatellite
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NM_000466.3(PEX1):c.2034_2035del (p.His678fs)

Allele ID
357601
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
7q21.2
Genomic location
7: 92504768-92504769 (GRCh38) GRCh38 UCSC
7: 92134082-92134083 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000466.2:c.2034_2035del
NC_000007.13:g.92134082TG[1]
NC_000007.14:g.92504768TG[1]
... more HGVS
Protein change
H470fs, H678fs
Other names
-
Canonical SPDI
NC_000007.14:92504767:TGTG:TG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041156
dbSNP: rs61750412
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 15, 2015 RCV000409983.3
Likely pathogenic 1 criteria provided, single submitter Dec 15, 2015 RCV000411506.1
Pathogenic 1 criteria provided, single submitter Apr 11, 2020 RCV001376588.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PEX1 - - GRCh38
GRCh37
543 782

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 15, 2015)
criteria provided, single submitter
Method: clinical testing
Peroxisome biogenesis disorder 1B
Allele origin: unknown
Counsyl
Accession: SCV000487459.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Dec 15, 2015)
criteria provided, single submitter
Method: clinical testing
Peroxisome biogenesis disorder 1A (Zellweger)
Allele origin: unknown
Counsyl
Accession: SCV000487458.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (2)
Pathogenic
(Apr 11, 2020)
criteria provided, single submitter
Method: clinical testing
Zellweger syndrome
Allele origin: germline
Invitae
Accession: SCV001208640.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.His678Glnfs*3) in the PEX1 gene. It is expected to result in an absent or disrupted protein … (more)

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
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. Cho SY Annals of clinical and laboratory science 2011 PMID: 21844578
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Ebberink MS Human mutation 2011 PMID: 21031596
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. Rosewich H Journal of medical genetics 2005 PMID: 16141001
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. Crane DI Human mutation 2005 PMID: 16086329
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Reuber BE Nature genetics 1997 PMID: 9398847

Text-mined citations for rs61750412...

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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 Oct 08, 2021