NM_005327.7(HADH):c.171C>A (p.Asp57Glu) AND Hyperinsulinemic hypoglycemia

Germline classification:: Uncertain risk allele (1 submission)
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:: RCV003221347.1

Allele description [Variation Report for NM_005327.7(HADH):c.171C>A (p.Asp57Glu)]

NM_005327.7(HADH):c.171C>A (p.Asp57Glu)

Gene:

HADH:hydroxyacyl-CoA dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_005327.7(HADH):c.171C>A (p.Asp57Glu)

Other names:

D45E; NM_005327.5(HADH):c.171C>A

HGVS:

NC_000004.12:g.108009797C>A
NG_008156.2:g.25014C>A
NM_001184705.4:c.171C>A
NM_001331027.2:c.183C>A
NM_005327.7:c.171C>AMANE SELECT
NP_001171634.3:p.Asp57Glu
NP_001317956.2:p.Asp61Glu
NP_005318.6:p.Asp57Glu
NC_000004.11:g.108930953C>A
Q16836:p.Asp57Glu

Protein change:

D57E; ASP45GLU

Links:

UniProtKB: Q16836#VAR_024080; OMIM: 601609.0002; dbSNP: rs137853102

NCBI 1000 Genomes Browser:

rs137853102

Molecular consequence:

NM_001184705.4:c.171C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001331027.2:c.183C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005327.7:c.171C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyperinsulinemic hypoglycemia
Synonyms:: Hyperinsulinemia hypoglycemia; Hyperinsulinemic hypoglycemia (disease)
Identifiers:: MONDO: MONDO:0005803; MedGen: C1864903; OMIM: PS256450; Human Phenotype Ontology: HP:0000825

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003915691	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Uncertain risk allele	unknown	research	PubMed (3) [See all records that cite these PMIDs] 34547194, 34055426, 29280746 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003915691

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Uncertain risk allele

unknown

research

PubMed (3)
[See all records that cite these PMIDs]

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	research

Citations

PubMed

Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.

Giri D, Hawton K, Senniappan S.

J Pediatr Endocrinol Metab. 2021 Sep 21;35(3):279-296. doi: 10.1515/jpem-2021-0369. Print 2022 Mar 28. Review.

PubMed [citation]

PMID:: 34547194

Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism.

Hashemian S, Esfehani RJ, Karimdadi S, Ghaemi N, Eshraghi P, Gonabadi NM, Sahebkar A, Vakili R, Abbaszadegan MR.

Case Rep Endocrinol. 2021;2021:8826174. doi: 10.1155/2021/8826174.

PubMed [citation]

PMID:: 34055426
PMCID:: PMC8137283

See all PubMed Citations (3)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV003915691.1

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

Description

Potent mutations in HADH gene are associated with congenital hyperinsulinism, which leads to recurrent hypoglycemia. The condition is exacerbated by stress, fasting or excessive dietary protein. May respond well to diazoxide. However, the role of this particular variant rs137853102 in congenital hyperinsulinism is yet to be ascertained.

#	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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