NM_000371.4(TTR):c.272T>C (p.Val91Ala) AND Familial amyloid neuropathy

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Nov 28, 2022
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:: RCV000014387.20

Allele description [Variation Report for NM_000371.4(TTR):c.272T>C (p.Val91Ala)]

NM_000371.4(TTR):c.272T>C (p.Val91Ala)

Gene:

TTR:transthyretin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_000371.4(TTR):c.272T>C (p.Val91Ala)

Other names:

V71A

HGVS:

NC_000018.10:g.31595191T>C
NG_009490.1:g.8425T>C
NM_000371.3:c.272T>C
NM_000371.4:c.272T>CMANE SELECT
NP_000362.1:p.Val91Ala
LRG_416t1:c.272T>C
LRG_416:g.8425T>C
NC_000018.9:g.29175154T>C
P02766:p.Val91Ala

Protein change:

V91A; VAL71ALA

Links:

UniProtKB: P02766#VAR_007579; OMIM: 176300.0029; dbSNP: rs121918084

NCBI 1000 Genomes Browser:

rs121918084

Molecular consequence:

NM_000371.4:c.272T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial amyloid neuropathy
Synonyms:: Amyloidosis Transthyretin related; Amyloid polyneuropathy transthyretin related; TTR amyloid neuropathy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007100; MedGen: C2751492; Orphanet: 85447; Orphanet: 85451; OMIM: 105210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034636	OMIM	no assertion criteria provided	Pathogenic (Feb 13, 1997)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9017946, 8257997
SCV004015007	Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	no assertion criteria provided (ACMG Guidelines, 2015)	Likely pathogenic (Nov 28, 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

SCV000034636

OMIM

no assertion criteria provided

Pathogenic
(Feb 13, 1997)

germline

literature only

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

SCV004015007

Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

no assertion criteria provided

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 28, 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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Aging, amyloid, and cardiomyopathy.

Benson MD.

N Engl J Med. 1997 Feb 13;336(7):502-4. No abstract available.

PubMed [citation]

PMID:: 9017946

Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.

Almeida Mdo R, Lopez-Andreu F, Munar-Qués M, Costa PP, Saraiva MJ.

Hum Mutat. 1993;2(5):420-1. No abstract available.

PubMed [citation]

PMID:: 8257997

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000034636.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a French woman with amyloidosis (105210) who presented at the age of 40 with neuropathy in all 4 limbs, diarrhea, and orthostatic hypotension, Benson et al. (1993) found a T-to-C transition converting codon 71 from GTG (valine) to GCG (alanine). The patient was heterozygous. The father died with a similar clinical picture, which included vitreous opacities. Two of 5 children were positive for the mutation. Almeida et al. (1993) found the same mutation in a Spanish kindred.

#	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

From Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals, SCV004015007.1

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

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

Last Updated: Apr 15, 2024

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