ClinVar Miner

Submissions for variant NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)

dbSNP: rs1554823375
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health RCV000855658 SCV000920632 likely pathogenic Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay 2019-05-06 criteria provided, single submitter research
Undiagnosed Diseases Network, NIH RCV000855668 SCV001499842 pathogenic Neurooculocardiogenitourinary syndrome 2019-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979913 SCV004797688 pathogenic WDR37-related condition 2024-01-02 criteria provided, single submitter clinical testing The WDR37 c.374C>T variant is predicted to result in the amino acid substitution p.Thr125Ile. This variant has been reported in the de novo state in multiple individuals with WDR37-related diseases (Reis et al. 2019. PubMed ID: 31327510; Kanca et al. 2019. PubMed ID: 31327508; Aldinger et al. 2019. PubMed ID: 31474318. Table S5; Zhu et al. 2022. PubMed ID: 35726512). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.
GenomeConnect, ClinGen RCV000509124 SCV000606936 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Dobyns Lab, Seattle Children's Research Institute RCV000779655 SCV000916334 likely pathogenic Cerebellar vermis hypoplasia; Ventriculomegaly 2019-02-18 no assertion criteria provided research
OMIM RCV000855668 SCV000998807 pathogenic Neurooculocardiogenitourinary syndrome 2019-11-05 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001258017 SCV001434831 likely pathogenic Congenital cerebellar hypoplasia no assertion criteria provided research

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