NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter) AND Deficiency of hydroxymethylglutaryl-CoA lyase

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 7, 2017
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:: RCV000668130.1

Allele description [Variation Report for NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)]

NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)

Gene:

HMGCL:3-hydroxy-3-methylglutaryl-CoA lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)

HGVS:

NC_000001.11:g.23804413A>T
NG_007068.1:g.1392T>A
NG_013061.1:g.26047T>A
NM_000191.3:c.863T>AMANE SELECT
NM_001166059.2:c.650T>A
NP_000182.2:p.Leu288Ter
NP_001159531.1:p.Leu217Ter
NC_000001.10:g.24130903A>T
NM_000191.2:c.863T>A

Protein change:

L217*

Links:

dbSNP: rs1425615804

NCBI 1000 Genomes Browser:

rs1425615804

Molecular consequence:

NM_000191.3:c.863T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001166059.2:c.650T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Deficiency of hydroxymethylglutaryl-CoA lyase (HMGCLD)
Synonyms:: HMG CoA lyase deficiency; Defect in leucine metabolism; 3-hydroxy-3-methylglutaric aciduria; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009520; MedGen: C0268601; Orphanet: 20; OMIM: 246450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000792681	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jul 7, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792681

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Jul 7, 2017)

unknown

clinical testing

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

Details of each submission

From Counsyl, SCV000792681.1

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

Last Updated: Mar 30, 2024

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