Total submissions: 2
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, |
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. |