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NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Nov 23, 2016)
Last evaluated:
Mar 3, 2016
Accession:
VCV000371715.1
Variation ID:
371715
Description:
single nucleotide variant
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NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)

Allele ID
357587
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.2
Genomic location
7: 92489803 (GRCh38) GRCh38 UCSC
7: 92119117 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.92119117C>A
NC_000007.14:g.92489803C>A
NG_008341.1:g.43729G>T
... more HGVS
Protein change
E1183*, E1126*, E975*
Other names
-
Canonical SPDI
NC_000007.14:92489802:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041144
dbSNP: rs1057517480
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 Mar 3, 2016 RCV000409825.1
Likely pathogenic 1 criteria provided, single submitter Mar 3, 2016 RCV000411784.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GATAD1 - - GRCh38
GRCh37
95 332
PEX1 - - GRCh38
GRCh37
554 793

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
Peroxisome biogenesis disorder 1A (Zellweger)
Allele origin: unknown
Counsyl
Accession: SCV000487531.1
Submitted: (Nov 23, 2016)
Evidence details
Likely pathogenic
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
Peroxisome biogenesis disorder 1B
Allele origin: unknown
Counsyl
Accession: SCV000487532.1
Submitted: (Nov 23, 2016)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1057517480...

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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