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NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) AND Developmental cataract

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
May 1, 2021
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:
RCV000203321.3

Allele description [Variation Report for NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)]

NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)

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.176C>T (p.Pro59Leu)
HGVS:
  • NC_000013.11:g.20143113G>A
  • NG_016399.1:g.22932C>T
  • NM_021954.4:c.176C>TMANE SELECT
  • NP_068773.2:p.Pro59Leu
  • NC_000013.10:g.20717252G>A
  • NM_021954.3:c.176C>T
  • Q9Y6H8:p.Pro59Leu
Protein change:
P59L
Links:
UniProtKB: Q9Y6H8#VAR_030022; dbSNP: rs864309691
NCBI 1000 Genomes Browser:
rs864309691
Molecular consequence:
  • NM_021954.4:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental cataract
Synonyms:
Congenital cataract; Congenital cataracts
Identifiers:
MedGen: C0009691; Human Phenotype Ontology: HP:0000519

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256021Eye Genetics Research Group, Children's Medical Research Institute
no assertion criteria provided
Pathogenic
(Jan 9, 2015) 		unknownresearch

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

SCV001573165Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 1, 2021) 		germlineresearch

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

Description

Family 26

SCV000256021

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV.

Hum Mutat. 2016 Apr;37(4):371-84. doi: 10.1002/humu.22948. Epub 2016 Jan 14.

PubMed [citation]
PMID:
26694549
PMCID:
PMC4787201

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 Eye Genetics Research Group, Children's Medical Research Institute, SCV000256021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania, SCV001573165.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024