NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) AND Senior-Loken syndrome 8

Clinical significance:Pathogenic (Last evaluated: Apr 8, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000169775.5

Allele description [Variation Report for NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)]

NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)

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.2129T>C (p.Leu710Ser)
HGVS:
  • NC_000004.12:g.39231943T>C
  • NG_031813.1:g.54540T>C
  • NM_001317924.2:c.1649T>C
  • NM_025132.4:c.2129T>CMANE SELECT
  • NP_001304853.1:p.Leu550Ser
  • NP_079408.3:p.Leu710Ser
  • NC_000004.11:g.39233563T>C
  • NM_025132.3:c.2129T>C
  • Q8NEZ3:p.Leu710Ser
Protein change:
L550S; LEU710SER
Links:
UniProtKB: Q8NEZ3#VAR_067314; OMIM: 608151.0001; dbSNP: rs387906980
NCBI 1000 Genomes Browser:
rs387906980
Molecular consequence:
  • NM_001317924.2:c.1649T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025132.4:c.2129T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Senior-Loken syndrome 8 (SLSN8)
Identifiers:
MONDO: MONDO:0014579; MedGen: C4225376; Orphanet: 3156; OMIM: 616307

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221337OMIMno assertion criteria providedPathogenic
(Aug 1, 2013)
germlineliterature only

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

SCV001573264Ocular Genomics Institute, Massachusetts Eye and Earcriteria provided, single submitter
Pathogenic
(Apr 8, 2021)
germlineresearch

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA.

CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30.

PubMed [citation]
PMID:
27241786
PMCID:
PMC4978597

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK.

Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.

PubMed [citation]
PMID:
23683095
PMCID:
PMC3904424
See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000221337.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Cranioectodermal Dysplasia 4

In a Norwegian sister and brother with Sensenbrenner syndrome (cranioectodermal dysplasia-4; 614378), Bredrup et al. (2011) identified compound heterozygosity for a 2129T-C transition in exon 18 of the WDR19 gene, resulting in a leu710-to-ser (L710S) substitution, and a 3307C-T transition in exon 30, resulting in an arg1103-to-ter (R1103X; 608151.0002) substitution. Each unaffected parent was heterozygous for 1 of the mutations, which were not found in 422 Norwegian controls. No IFT144 was detected in the cilia of patient fibroblasts, indicating a complete loss of function; in addition, there was significant reduction in the number of ciliated cells as well as in cilium length of most cilia that were observed compared to cilia of control fibroblasts.

Senior-Loken Syndrome 8

In affected members of a consanguineous French Canadian family with retinitis pigmentosa and renal cysts (SLSN8; 616307), who were negative for mutation in all known autosomal recessive retinitis pigmentosa-associated genes, Coussa et al. (2013) identified homozygosity for the c.2129T-C mutation (c.2129T-C, NM_025132.3) in the WDR19 gene, resulting in the L710S substitution.

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

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573264.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (5)

Description

The WDR19 c.2129T>C variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PS4, PM2, PM3, PP1, PP3, PP5. Based on this evidence we have classified this variant as Pathogenic.

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

Last Updated: May 10, 2021

Support Center