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NM_021954.4(GJA3):c.596A>C (p.Glu199Ala) AND Cataract 14 multiple types

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 21, 2023
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:
RCV004593622.1

Allele description [Variation Report for NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)]

NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)

Gene:
GJA3:gap junction protein alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)
HGVS:
  • NC_000013.11:g.20142693T>G
  • NG_016399.1:g.23352A>C
  • NM_021954.4:c.596A>CMANE SELECT
  • NP_068773.2:p.Glu199Ala
  • NC_000013.10:g.20716832T>G
Protein change:
E199A
Molecular consequence:
  • NM_021954.4:c.596A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cataract 14 multiple types
Synonyms:
Zonular pulverulent cataract 3; CATARACT 14, ZONULAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011162; MedGen: C1866078; Orphanet: 91492; OMIM: 601885

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005081816Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 21, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Gillespie RL, O'Sullivan J, Ashworth J, Bhaskar S, Williams S, Biswas S, Kehdi E, Ramsden SC, Clayton-Smith J, Black GC, Lloyd IC.

Ophthalmology. 2014 Nov;121(11):2124-37.e1-2. doi: 10.1016/j.ophtha.2014.06.006. Epub 2014 Aug 19.

PubMed [citation]
PMID:
25148791

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania, SCV005081816.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

Variant identified and curated during a GJA3 specific review of the literature in relation to pediatric or congenital cataract. ACMG-AMP criteria applied: PM2(Supporting), PP3. Original variant report: PMID:25148791. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320

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

Last Updated: Jul 29, 2024