NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) AND Thyroxine-binding globulin, variant P

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1992
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:: RCV000010442.3

Allele description [Variation Report for NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)]

NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)

Gene:

SERPINA7:serpin family A member 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

Preferred name:

NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)

Other names:

L283F; variant P; OMIM: 314200; NC_000023.10:g.105278361C>A

HGVS:

NC_000023.11:g.106034370C>A
NG_021252.1:g.9358G>T
NM_000354.6:c.909G>TMANE SELECT
NP_000345.2:p.Leu303Phe
NC_000023.10:g.105278361C>A
NM_000354.5:c.909G>T
P05543:p.Leu303Phe

Protein change:

L303F; LEU283PHE

Links:

UniProtKB: P05543#VAR_007108; OMIM: 314200.0003; dbSNP: rs1804495

Molecular consequence:

NM_000354.6:c.909G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Thyroxine-binding globulin, variant P
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030668	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1992)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 2155256, 2495303, 1901689, 18407078

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030668

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1992)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect.

Mori Y, Takeda K, Charbonneau M, Refetoff S.

J Clin Endocrinol Metab. 1990 Mar;70(3):804-9.

PubMed [citation]

PMID:: 2155256

Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties.

Takeda K, Mori Y, Sobieszczyk S, Seo H, Dick M, Watson F, Flink IL, Seino S, Bell GI, Refetoff S.

J Clin Invest. 1989 Apr;83(4):1344-8.

PubMed [citation]

PMID:: 2495303
PMCID:: PMC303827

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000030668.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

Description

This polymorphism, TBG-P, is found in several populations including French Canadians (Mori et al., 1990) and Australian aborigines (Takeda et al., 1989). Bertenshaw et al. (1991) found this polymorphism in the proband with TBG-Quebec; see 314200.0005. This polymorphism is a TTG/TTT variation at codon 283. Janssen et al. (1992) pointed out that 3 of the 7 examples of partial or complete TBG deficiency characterized at the molecular level carried the phe283 form of the polymorphism. These are TBG-Aborigine (314200.0002), complete TBG deficiency 5 (CD5; 314200.0001), and TBG-Quebec (314200.0005). In addition to the mutation unique to each variant, they all share the substitution of leucine-283 with phenylalanine. The latter substitution has also been found alone in a TBG with normal properties. Since the phe283 variant does not have a high allele frequency, its association with other mutations may not be fortuitous.

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

Last Updated: Nov 2, 2025

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