ClinVar Miner

Submissions for variant NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)

gnomAD frequency: 0.00004  dbSNP: rs150433582
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV001257976 SCV001442533 pathogenic Familial aplasia of the vermis 2020-05-26 criteria provided, single submitter research
GeneDx RCV001776163 SCV002013719 uncertain significance not provided 2021-10-12 criteria provided, single submitter clinical testing Observed with another FAM179B (TOGARAM1) variant on the opposite allele (in trans) in a fetus with vermis hypoplasia, polydactyly, and dysmorphic features (Latour et al., 2019); Functional studies demonstrated that this variant was associated with impaired interaction with ARMC9 (Latour et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32453716)
University of Washington Center for Mendelian Genomics, University of Washington RCV001257976 SCV001434789 likely pathogenic Familial aplasia of the vermis no assertion criteria provided research
OMIM RCV001293021 SCV001481793 pathogenic Joubert syndrome 37 2021-02-22 no assertion criteria provided literature only

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