NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) AND Oto-palato-digital syndrome, type I

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 28, 2008
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:: RCV000012538.26

Allele description [Variation Report for NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)]

NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)

HGVS:

NC_000023.11:g.154367878G>A
NG_011506.2:g.11761C>T
NM_001110556.2:c.586C>TMANE SELECT
NM_001456.4:c.586C>T
NP_001104026.1:p.Arg196Trp
NP_001447.2:p.Arg196Trp
NP_001447.2:p.Arg196Trp
LRG_1340t1:c.586C>T
LRG_1340:g.11761C>T
LRG_1340p1:p.Arg196Trp
NC_000023.10:g.153596246G>A
NM_001110556.1:c.586C>T
NM_001456.3:c.586C>T
P21333:p.Arg196Trp

Protein change:

R196W; ARG196TRP

Links:

UniProtKB: P21333#VAR_015716; OMIM: 300017.0026; dbSNP: rs137853317

NCBI 1000 Genomes Browser:

rs137853317

Molecular consequence:

NM_001110556.2:c.586C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001456.4:c.586C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Oto-palato-digital syndrome, type I (OPD1)
Synonyms:: OPD I SYNDROME; Oto-palato-digital syndrome type 1; Taybi syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010704; MedGen: C0265251; Orphanet: 669; OMIM: 311300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032772	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15917206, 17264970
SCV000222855	Claritas Genomics	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Feb 28, 2008)	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

SCV000032772

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2007)

germline

literature only

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

SCV000222855

Claritas Genomics

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Feb 28, 2008)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only, clinical testing

Citations

PubMed

Filamin A: phenotypic diversity.

Robertson SP.

Curr Opin Genet Dev. 2005 Jun;15(3):301-7. Review.

PubMed [citation]

PMID:: 15917206

A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

Kondoh T, Okamoto N, Norimatsu N, Uetani M, Nishimura G, Moriuchi H.

J Hum Genet. 2007;52(4):370-373. doi: 10.1007/s10038-007-0108-7. Epub 2007 Jan 31.

PubMed [citation]

PMID:: 17264970

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000032772.3

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

Description

In a patient with OPD type I (311300), Robertson et al. (2003) identified a 586C-T transition in exon 3 of the FLNA gene, resulting in an arg196-to-trp (R196W) substitution.

Kondoh et al. (2007) identified the R196W mutation in a 12-year-old Japanese boy with OPD type II (304120). The patient had some additional unusual features, including congenital cataract, glaucoma, and congenital heart defects. Kondoh et al. (2007) noted the different phenotype caused by the same mutation and suggested that additional factors play a role in the pathogenesis of OPD spectrum disorders.

#	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 Claritas Genomics, SCV000222855.1

#	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	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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