NM_000466.3(PEX1):c.358-2A>C AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 19, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000670124.2

Allele description [Variation Report for NM_000466.3(PEX1):c.358-2A>C]

NM_000466.3(PEX1):c.358-2A>C

Gene:

PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_000466.3(PEX1):c.358-2A>C

HGVS:

NC_000007.14:g.92518257T>G
NG_008341.2:g.15275A>C
NM_000466.3:c.358-2A>CMANE SELECT
NM_001282677.2:c.358-2A>C
NM_001282678.2:c.-267-2A>C
NC_000007.13:g.92147571T>G
NM_000466.2:c.358-2A>C
NM_001282677.2:c.358-2A>C

Links:

dbSNP: rs1057517500

NCBI 1000 Genomes Browser:

rs1057517500

Molecular consequence:

NM_000466.3:c.358-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001282677.2:c.358-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001282678.2:c.-267-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
Synonyms:: Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
Identifiers:: MONDO: MONDO:0008953; MedGen: C4721541; OMIM: 214100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000794941	Counsyl	no assertion criteria provided	Likely pathogenic (Oct 19, 2017)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794941

Counsyl

no assertion criteria provided

Likely pathogenic
(Oct 19, 2017)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000794941.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 3, 2026

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