Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599026 | SCV000709945 | pathogenic | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | The c.731_734delTAAC variant in the SLC2A10 gene has been reported previously, using alternate nomenclature as c.730_733delCTAA, in trans with a second SLC2A10 variant in a male child with arterial tortuosity syndrome (Callewaert et al., 2008). This variant causes a frameshift starting with codon Leucine 244, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Leu244GlnfsX35. The c.731_734delTAAC variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.731_734delTAAC as a pathogenic variant. |
CHEO Genetics Diagnostic Laboratory, |
RCV001798463 | SCV002043617 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000202501 | SCV000195662 | not provided | Arterial tortuosity syndrome | no assertion provided | literature only |