NM_000159.4(GCDH):c.873del (p.Asn291fs) AND Glutaric aciduria, type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 31, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000412413.2

Allele description [Variation Report for NM_000159.4(GCDH):c.873del (p.Asn291fs)]

NM_000159.4(GCDH):c.873del (p.Asn291fs)

Gene:

GCDH:glutaryl-CoA dehydrogenase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_000159.4(GCDH):c.873del (p.Asn291fs)

HGVS:

NC_000019.10:g.12896930del
NG_009292.1:g.10771del
NM_000159.4:c.873delMANE SELECT
NM_013976.5:c.873del
NP_000150.1:p.Asn291fs
NP_039663.1:p.Asn291fs
NC_000019.9:g.13007744del
NM_000159.2:c.873delC
NR_102316.1:n.1036del
NR_102317.1:n.1254del

Protein change:

N291fs

Links:

dbSNP: rs1057517407

NCBI 1000 Genomes Browser:

rs1057517407

Molecular consequence:

NM_000159.4:c.873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013976.5:c.873del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_102316.1:n.1036del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_102317.1:n.1254del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Glutaric aciduria, type 1
Synonyms:: GA I; Glutaryl-CoA dehydrogenase deficiency; Glutaric acidemia type I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009281; MedGen: C0268595; Orphanet: 25; OMIM: 231670

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487231	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Oct 31, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487231

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Oct 31, 2016)

unknown

clinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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

Citations

PubMed

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.

Wang Q, Li X, Ding Y, Liu Y, Song J, Yang Y.

Brain Dev. 2014 Oct;36(9):813-22. doi: 10.1016/j.braindev.2013.11.006. Epub 2013 Dec 9.

PubMed [citation]

PMID:: 24332224

Details of each submission

From Counsyl, SCV000487231.2

#	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

Last Updated: Jul 29, 2023

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