NM_000477.7(ALB):c.725G>A (p.Arg242His) AND Hyperthyroxinemia, familial dysalbuminemic

Clinical significance:Uncertain significance (Last evaluated: Mar 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000019886.32

Allele description [Variation Report for NM_000477.7(ALB):c.725G>A (p.Arg242His)]

NM_000477.7(ALB):c.725G>A (p.Arg242His)

Gene:
ALB:albumin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q13.3
Genomic location:
Preferred name:
NM_000477.7(ALB):c.725G>A (p.Arg242His)
Other names:
R218H
HGVS:
  • NC_000004.12:g.73412007G>A
  • NG_009291.1:g.12753G>A
  • NM_000477.7:c.725G>AMANE SELECT
  • NP_000468.1:p.Arg242His
  • NC_000004.11:g.74277724G>A
  • NM_000477.5:c.725G>A
  • P02768:p.Arg242His
Protein change:
R242H; ARG218HIS
Links:
UniProtKB: P02768#VAR_000514; OMIM: 103600.0041; dbSNP: rs75002628
NCBI 1000 Genomes Browser:
rs75002628
Molecular consequence:
  • NM_000477.7:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperthyroxinemia, familial dysalbuminemic (FDAH)
Synonyms:
EUTHYROID HYPERTHYROXINEMIA 1
Identifiers:
MONDO: MONDO:0014448; MedGen: C0342185; OMIM: 615999

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040184OMIMno assertion criteria providedPathogenic
(Jul 29, 1994)
germlineliterature only

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

Pohlenz, J., Sadow, P. M., Koffler, T., Schonberger, W., Weiss, R. E., Refetoff, S. Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. J. Pediat. 139: 887-891, 2001.,

SCV000267207Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Uncertain significance
(Mar 18, 2016)
germlinereference population

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.

Sunthornthepvarakul T, Angkeow P, Weiss RE, Hayashi Y, Refetoff S.

Biochem Biophys Res Commun. 1994 Jul 29;202(2):781-7.

PubMed [citation]
PMID:
8048949

A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia.

Petersen CE, Scottolini AG, Cody LR, Mandel M, Reimer N, Bhagavan NV.

J Med Genet. 1994 May;31(5):355-9.

PubMed [citation]
PMID:
8064810
PMCID:
PMC1049864
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000040184.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 2 unrelated patients with dysalbuminemic hyperthyroxinemia (FDAH; 615999), Petersen et al. (1994) identified an arg218-to-his substitution that was caused by a G (CGC)-to-A (CAG) transition at nucleotide 653 in the ALB gene. Abnormal affinity of the albumin from these patients for a thyroxine analog was verified by an adaptation of the procedure used in routine free T4 measurement. Both subjects were heterozygous. During the preparation of the manuscript, a third patient with the same mutation was found, suggesting that R218H may be the most frequent cause of this disorder. The mutation created a new HphI restriction site in exon 7, which was used diagnostically.

Sunthornthepvarakul et al. (1994) identified R218H mutation in affected members of 8 unrelated families with dysalbuminemic hyperthyroxinemia.

Pohlenz et al. (2001) reported a 5-month-old boy with familial dysalbuminemic hyperthyroxinemia and congenital hypothyroidism who had a blood thyrotropin (TSH) level of 479 mU/L but normal T4 and elevated T3 levels. The patient and his euthyroid father and brother all carried the R218H mutation.

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

From Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267207.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 6, 2021

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