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NM_000165.5(GJA1):c.581A>C (p.His194Pro) AND Oculodentodigital dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 15, 2005
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:
RCV000018515.29

Allele description [Variation Report for NM_000165.5(GJA1):c.581A>C (p.His194Pro)]

NM_000165.5(GJA1):c.581A>C (p.His194Pro)

Gene:
GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_000165.5(GJA1):c.581A>C (p.His194Pro)
HGVS:
  • NC_000006.12:g.121447428A>C
  • NG_008308.1:g.16830A>C
  • NM_000165.5:c.581A>CMANE SELECT
  • NP_000156.1:p.His194Pro
  • LRG_1289t1:c.581A>C
  • LRG_1289:g.16830A>C
  • LRG_1289p1:p.His194Pro
  • NC_000006.11:g.121768574A>C
  • P17302:p.His194Pro
Protein change:
H194P; HIS194PRO
Links:
UniProtKB: P17302#VAR_059008; OMIM: 121014.0013; dbSNP: rs104893966
NCBI 1000 Genomes Browser:
rs104893966
Molecular consequence:
  • NM_000165.5:c.581A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oculodentodigital dysplasia (ODDD)
Synonyms:
ODD syndrome; Oculodentodigital syndrome
Identifiers:
MONDO: MONDO:0008111; MedGen: C0812437; Orphanet: 2710; OMIM: 164200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038797OMIM
no assertion criteria provided
Pathogenic
(Feb 15, 2005) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Autosomal dominant simple microphthalmos.

Vingolo EM, Steindl K, Forte R, Zompatori L, Iannaccone A, Sciarra A, Del Porto G, Pannarale MR.

J Med Genet. 1994 Sep;31(9):721-5.

PubMed [citation]
PMID:
7815444
PMCID:
PMC1050085

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.

Vitiello C, D'Adamo P, Gentile F, Vingolo EM, Gasparini P, Banfi S.

Am J Med Genet A. 2005 Feb 15;133A(1):58-60.

PubMed [citation]
PMID:
15637728

Details of each submission

From OMIM, SCV000038797.3

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

Description

In affected members of an Italian family first reported by Vingolo et al. (1994) as having 'simple microphthalmos,' Vitiello et al. (2005) identified a heterozygous 581A-C transversion in the GJA1 gene, resulting in a his194-to-pro (H194P) substitution in a highly conserved residue within the second extracellular domain of the protein. The H194P substitution was predicted to dramatically alter the correct folding of the protein, preventing the formation of the entire connexon in a dominant-negative manner. On clinical reevaluation of the family, Vitiello et al. (2005) found extraocular signs that were highly suggestive of oculodentodigital dysplasia (ODDD; 164200). However, none of the patients had hand or foot syndactyly or any neurologic signs.

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

Last Updated: Apr 23, 2022