NM_004092.4(ECHS1):c.440T>C (p.Met147Thr) AND Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 23, 2022
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:: RCV003140551.1

Allele description [Variation Report for NM_004092.4(ECHS1):c.440T>C (p.Met147Thr)]

NM_004092.4(ECHS1):c.440T>C (p.Met147Thr)

Gene:

ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.3

Genomic location:

Preferred name:

NM_004092.4(ECHS1):c.440T>C (p.Met147Thr)

HGVS:

NC_000010.11:g.133368997A>G
NG_042077.1:g.9408T>C
NM_004092.4:c.440T>CMANE SELECT
NP_004083.3:p.Met147Thr
NC_000010.10:g.135182501A>G

Protein change:

M147T

Molecular consequence:

NM_004092.4:c.440T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Synonyms:: PxMD-ECHS1
Identifiers:: MONDO: MONDO:0014563; MedGen: C4225391; Orphanet: 255241; OMIM: 616277

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003807370	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 23, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003807370

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 23, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807370.1

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

Description

ACMG classification criteria: PM2 moderated, PP3 supporting

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

Last Updated: Jul 15, 2024

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