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NM_003278.3(CLEC3B):c.539C>A (p.Ala180Asp) AND Macular dystrophy, retinal, 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 26, 2022
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:
RCV002271318.1

Allele description [Variation Report for NM_003278.3(CLEC3B):c.539C>A (p.Ala180Asp)]

NM_003278.3(CLEC3B):c.539C>A (p.Ala180Asp)

Gene:
CLEC3B:C-type lectin domain family 3 member B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_003278.3(CLEC3B):c.539C>A (p.Ala180Asp)
HGVS:
  • NC_000003.12:g.45035854C>A
  • NM_001308394.2:c.413C>A
  • NM_003278.3:c.539C>AMANE SELECT
  • NP_001295323.1:p.Ala138Asp
  • NP_003269.2:p.Ala180Asp
  • NC_000003.11:g.45077346C>A
Protein change:
A138D; ALA180ASP
Links:
OMIM: 187520.0001
Molecular consequence:
  • NM_001308394.2:c.413C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003278.3:c.539C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Macular dystrophy, retinal, 4 (MCDR4)
Identifiers:
MONDO: MONDO:0859568; MedGen: C5774187; OMIM: 619977

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002553197OMIM
no assertion criteria provided
Pathogenic
(Jul 26, 2022) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

CLEC3B is a novel causative gene for macular-retinal dystrophy.

Zhou R, Mawatari G, Cai XB, Shen RJ, Wang YH, Wang YT, Guo YM, Guo FY, Yuan J, Pan D, Nao-I N, Jin ZB.

Genet Med. 2022 Jun;24(6):1249-1260. doi: 10.1016/j.gim.2022.02.012. Epub 2022 Mar 22.

PubMed [citation]
PMID:
35331648

Details of each submission

From OMIM, SCV002553197.1

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

Description

In affected individuals from 5 Japanese families with retinal macular dystrophy-4 (MCDR4; 619977), Zhou et al. (2022) identified heterozygosity for a c.539C-A transversion (c.539C-A, NM_003278.3) in the CLEC3B gene, resulting in an ala180-to-asp (A180D) substitution at a conserved residue. The mutation segregated fully with disease in the 5 families, which were all from the same small village, and the variant was not found in the 1000 Genomes Project or gnomAD databases. Overexpression of the A180D Clec3b variant in mouse retina recapitulated the human phenotype, with extensive retinal thinning, photoreceptor loss, and pigmentary subretinal deposits, as well as reduced retinal function.

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

Last Updated: Jun 3, 2023