NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 1, 2023
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:: RCV000400835.6

Allele description [Variation Report for NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)]

NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)

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.109G>T (p.Glu37Ter)

HGVS:

NC_000001.11:g.23820545C>A
NG_013061.1:g.9915G>T
NM_000191.3:c.109G>TMANE SELECT
NM_001166059.2:c.109G>T
NP_000182.2:p.Glu37Ter
NP_001159531.1:p.Glu37Ter
NC_000001.10:g.24147035C>A
NM_000191.2:c.109G>T

Protein change:

E37*

Links:

dbSNP: rs763494292

NCBI 1000 Genomes Browser:

rs763494292

Molecular consequence:

NM_000191.3:c.109G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001166059.2:c.109G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000227048	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Dec 4, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23465862, 9163320 Citation Link,
SCV000329363	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000227048

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Dec 4, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000329363

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

Puisac B, Teresa-Rodrigo ME, Arnedo M, Gil-Rodríguez MC, Pérez-Cerdá C, Ribes A, Pié A, Bueno G, Gómez-Puertas P, Pié J.

Mol Genet Metab. 2013 Apr;108(4):232-40. doi: 10.1016/j.ymgme.2013.01.019. Epub 2013 Feb 4.

PubMed [citation]

PMID:: 23465862

A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Pié J, Casals N, Casale CH, Buesa C, Mascaró C, Barceló A, Rolland MO, Zabot T, Haro D, Eyskens F, Divry P, Hegardt FG.

Biochem J. 1997 Apr 15;323 ( Pt 2):329-35.

PubMed [citation]

PMID:: 9163320
PMCID:: PMC1218323

Details of each submission

From Eurofins Ntd Llc (ga), SCV000227048.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		3	not provided	not provided	not provided

From GeneDx, SCV000329363.7

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 19177531, 15752612, 18080783, 25525159, 9439591, 15308132, 17692550, 28583327, 28257639, 31589614, 28396157, 9163320, 23465862)

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

Last Updated: Mar 30, 2024

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