NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) AND Glutaric aciduria, type 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 2, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000171558.4

Allele description [Variation Report for NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)]

NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)

Gene:
GCDH:glutaryl-CoA dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)
HGVS:
  • NC_000019.10:g.12896244G>A
  • NG_009292.1:g.10085G>A
  • NM_000159.4:c.675G>AMANE SELECT
  • NM_013976.4:c.675G>A
  • NP_000150.1:p.Trp225Ter
  • NP_039663.1:p.Trp225Ter
  • NC_000019.9:g.13007058G>A
  • NM_000159.2:c.675G>A
  • NR_102316.1:n.838G>A
  • NR_102317.1:n.1056G>A
Protein change:
W225*
Links:
dbSNP: rs786205862
NCBI 1000 Genomes Browser:
rs786205862
Molecular consequence:
  • NR_102316.1:n.838G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_102317.1:n.1056G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000159.4:c.675G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_013976.4:c.675G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Glutaric aciduria, type 1 (GA1)
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000223743National Institute of Mental Health and Neurosciencesno assertion criteria providedPathogenic
(Dec 8, 2015)
germlineresearch

SCV000485941Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 2, 2016)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedresearch
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From National Institute of Mental Health and Neurosciences, SCV000223743.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

From Counsyl, SCV000485941.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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