ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs)

dbSNP: rs864309481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Children's Hospital of Eastern Ontario RCV001798463 SCV002043617 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2021-02-02 criteria provided, single submitter clinical testing
GeneReviews RCV000202501 SCV000195662 not provided Arterial tortuosity syndrome no assertion provided literature only

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