ClinVar Miner

Submissions for variant NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr)

gnomAD frequency: 0.00326  dbSNP: rs35703638
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258283 SCV001435209 likely benign Usher syndrome type 2C criteria provided, single submitter research The heterozygous p.Ala449Thr variant in WDR36 has been identified in at least 2 individuals with primary open angle glaucoma (PMID: 15677485, 19150991, 22995991). However, this variant has also been described as a benign polymorphism that does not segregate with disease (PMID: 18172102), and has been identified in >3% of South Asian chromosomes and 31 homozygotes by ExAC (http://gnomad.broadinstitute.org/). Models in yeast suggest that this variant does not cause primary open angle glaucoma (PMID: 19150991). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for primary open angle glaucoma.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054408 SCV002390056 benign not provided 2023-10-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054408 SCV005221511 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000001649 SCV000021805 uncertain significance Glaucoma 1, open angle, G 2008-01-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003924795 SCV004743305 benign WDR36-related disorder 2024-09-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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