ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs387907009
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462160 SCV000541364 pathogenic Nephronophthisis 2022-07-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 30779). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis (PMID: 21220633, 27624628). This variant is present in population databases (rs387907009, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu346*) in 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 (PMID: 15723066, 21901789, 23559409, 28041643).
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000023758 SCV001573405 pathogenic Senior-Loken syndrome 5 2021-04-08 criteria provided, single submitter research The IQCB1 c.1036G>T 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: PVS1, PM2, PM3, PP1-M, PS3. Based on this evidence we have classified this variant as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000023758 SCV002788089 pathogenic Senior-Loken syndrome 5 2021-11-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000023758 SCV004192432 pathogenic Senior-Loken syndrome 5 2024-03-04 criteria provided, single submitter clinical testing
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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