NM_000466.3(PEX1):c.358-2A>C AND Heimler syndrome 1

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Mar 12, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV004568536.3

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:: Heimler syndrome 1 (HMLR1)
Synonyms:: PEROXISOME BIOGENESIS DISORDER 1C
Identifiers:: MedGen: C4551980; Orphanet: 3220; OMIM: 234580

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005055211	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 12, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005873692	Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	criteria provided, single submitter (Submitter's publication)	Pathogenic (Mar 6, 2021)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005055211

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 12, 2024)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV005873692

Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Mar 6, 2021)

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
South East Asian	unknown	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV005055211.1

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

#	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

From Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare, SCV005873692.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 5, 2025

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