ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs)

dbSNP: rs1474058708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050356 SCV001214458 pathogenic Nephronophthisis 2023-01-22 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: 1833). This premature translational stop signal has been observed in individual(s) with Senior-Loken syndrome or Leber congenital amaurosis (PMID: 15723066, 20881296). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg275Serfs*6) 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).
OMIM RCV000001907 SCV000022065 pathogenic Senior-Loken syndrome 5 2005-03-01 no assertion criteria provided literature only

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