ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)

gnomAD frequency: 0.00001  dbSNP: rs1193996130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003811074 SCV004611894 pathogenic Nephronophthisis 2024-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu34*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IQCB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2955923). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004573339 SCV005059767 likely pathogenic Senior-Loken syndrome 5 2023-12-07 criteria provided, single submitter clinical testing

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