ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) (rs387907009)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462160 SCV000541364 pathogenic Nephronophthisis 2016-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 346 (p.Glu346*) of the IQCB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IQCB1 are known to be pathogenic. This particular variant has been reported in the literature in an individual and family affected with Leber congenital amaurosis (PMID: 27624628, 21220633). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023758 SCV000045049 pathogenic Senior-Loken syndrome 5 2011-01-01 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504719 SCV000598849 pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research

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