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:

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

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

WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
  • 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
UniProtKB: Q8NEZ3#VAR_067314; OMIM: 608151.0001; dbSNP: rs387906980
NCBI 1000 Genomes Browser:
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]


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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
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
(Apr 8, 2021)

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



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]

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]
See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000221337.3

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


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.

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)


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.

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

Last Updated: May 10, 2021

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