ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.758del (p.Cys253fs)

dbSNP: rs770441610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003462849 SCV004197984 pathogenic Senior-Loken syndrome 5 2023-04-01 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328085 SCV001449344 likely pathogenic Nephronophthisis 2018-03-02 no assertion criteria provided clinical testing This patient is also heterozygous for a 4 bp duplication, c.897_900dup, in the IQCB1 gene. This frameshifting variant is predicted to create a premature stop codon p.(Ile301Leufs*42) and may result in a null allele due to nonsense-mediated mRNA decay. This variant has been listed in the ExAC database (http://exac.broadinstitute.org) with a low allele frequency of 0.01% (8 out of 66,560 alleles). The c.897_900dup variant has been reported in a compound heterozygous state with another truncating variant in a patient with Senior-Loken syndrome (Halbritter et al. 2012 J Med Genet 49:756-767). This variant is considered to be likely pathogenic according to the ACMG guidelines.

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