NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser) AND Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 21, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001828623.1

Allele description [Variation Report for NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)]

NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)

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.614C>G (p.Thr205Ser)

HGVS:

NC_000001.11:g.23808271G>C
NG_013061.1:g.22189C>G
NM_000191.3:c.614C>GMANE SELECT
NM_001166059.2:c.401C>G
NP_000182.2:p.Thr205Ser
NP_001159531.1:p.Thr134Ser
NC_000001.10:g.24134761G>C
NM_000191.2:c.614C>G

Protein change:

T134S

Links:

dbSNP: rs1445870588

NCBI 1000 Genomes Browser:

rs1445870588

Molecular consequence:

NM_000191.3:c.614C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001166059.2:c.401C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Synonyms:: Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD Deficiency
Identifiers:: MONDO: MONDO:0012173; MedGen: C3711645; Orphanet: 5; OMIM: 609016

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002094158	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 21, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002094158

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 21, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002094158.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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