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NM_005327.7(HADH):c.72G>A (p.Lys24=) AND Hyperinsulinemic hypoglycemia

Germline classification:
Likely benign (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:
RCV003221352.1

Allele description [Variation Report for NM_005327.7(HADH):c.72G>A (p.Lys24=)]

NM_005327.7(HADH):c.72G>A (p.Lys24=)

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.72G>A (p.Lys24=)
HGVS:
  • NC_000004.12:g.107990004G>A
  • NG_008156.2:g.5221G>A
  • NM_001184705.4:c.72G>A
  • NM_005327.7:c.72G>AMANE SELECT
  • NP_001171634.3:p.Lys24=
  • NP_005318.6:p.Lys24=
  • NC_000004.11:g.108911160G>A
  • NC_000004.11:g.108911160G>A
  • NM_005327.4:c.72G>A
Links:
dbSNP: rs781319494
NCBI 1000 Genomes Browser:
rs781319494
Molecular consequence:
  • NM_001184705.4:c.72G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005327.7:c.72G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003915682Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

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

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

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, SCV003915682.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch 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 rs781319494 in congenital hyperinsulinism is yet to be ascertained.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024