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NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) AND Leber congenital amaurosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 9, 2020
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:
RCV001262101.1

Allele description [Variation Report for NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)]

NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)

Gene:
WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
HGVS:
  • NC_000004.12:g.39273029G>A
  • NG_031813.1:g.95626G>A
  • NM_001317924.2:c.3053G>A
  • NM_025132.4:c.3533G>AMANE SELECT
  • NP_001304853.1:p.Arg1018Gln
  • NP_079408.3:p.Arg1178Gln
  • NC_000004.11:g.39274649G>A
  • NM_025132.3:c.3533G>A
  • Q8NEZ3:p.Arg1178Gln
Protein change:
R1018Q; ARG1178GLN
Links:
UniProtKB: Q8NEZ3#VAR_073678; OMIM: 608151.0010; dbSNP: rs79436363
NCBI 1000 Genomes Browser:
rs79436363
Molecular consequence:
  • NM_001317924.2:c.3053G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025132.4:c.3533G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001371860Institute of Vision Research, Yonsei University College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 9, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.

Surl D, Shin S, Lee ST, Choi JR, Lee J, Byeon SH, Han SH, Lim HT, Han J.

Mol Vis. 2020;26:26-35.

PubMed [citation]
PMID:
32165824
PMCID:
PMC7043639

Details of each submission

From Institute of Vision Research, Yonsei University College of Medicine, SCV001371860.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024