NM_005267.4(GJA8):c.566C>T (p.Pro189Leu) AND Cataract 1

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000059334.2

Allele description [Variation Report for NM_005267.4(GJA8):c.566C>T (p.Pro189Leu)]

NM_005267.4(GJA8):c.566C>T (p.Pro189Leu)

Gene:
GJA8:gap junction protein alpha 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.2
Genomic location:
Preferred name:
NM_005267.4(GJA8):c.566C>T (p.Pro189Leu)
HGVS:
  • NC_000001.11:g.147908521C>T
  • NG_016242.1:g.10703C>T
  • NM_005267.4:c.566C>T
  • NP_005258.2:p.Pro189Leu
  • NC_000001.10:g.147380648C>T
Protein change:
P189L; PRO189LEU
Links:
OMIM: 600897.0008; dbSNP: rs397515627
NCBI 1000 Genomes Browser:
rs397515627
Molecular consequence:
  • NM_005267.4:c.566C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cataract 1 (CTRCT1)
Synonyms:
CATARACT, DUFFY-LINKED; CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; CATARACT 1, NUCLEAR PROGRESSIVE; See all synonyms [MedGen]
Identifiers:
MedGen: C1861828; Orphanet: 1377; OMIM: 116200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000105912OMIMno assertion criteria providedPathogenic
(Sep 1, 2007)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3937-44.

PubMed [citation]
PMID:
17724170

Details of each submission

From OMIM, SCV000105912.1

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

Description

In a Danish mother and her 3 children with stellate nuclear cataract and microcornea (CTRCT1; 116200), Hansen et al. (2007) identified heterozygosity for a c.565C-T transition in exon 2 of the GJA8 gene, resulting in a pro189-to-leu (P189L) substitution at a highly conserved residue in the second extracellular region. The mutation was not found in 170 ethnically matched volunteers. Examination of the 4 affected family members showed star-shaped nuclear opacities with a whitish central core; corneas were 10 mm in diameter.

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

Last Updated: Jul 21, 2018