ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) (rs797045027)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191060 SCV000245449 pathogenic KBG syndrome 2012-07-27 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 20-year-old female with intellectual disability, mild unilateral hearing loss, ptosis, Marcus Gunn pupil, short stature, scoliosis, wrinkled palms, dysmorphisms
GeneDx RCV000255252 SCV000322338 pathogenic not provided 2018-06-26 criteria provided, single submitter clinical testing The c.2398_2401delGAAA pathogenic variant in the ANKRD11 gene has been reported previously in association with KBG syndrome in at least two families, one where it occurred as a de novo variant and another where an affected mother and two children all carried the variant (Goldenberg et al., 2016; Kim et al., 2015). The c.2398_2401delGAAA variant causes a frameshift starting with codon Glutamic acid 800, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 62 of the new reading frame, denoted p.Glu800AsnfsX62. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2398_2401delGAAA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2398_2401delGAAA as a pathogenic variant.
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000191060 SCV000803683 pathogenic KBG syndrome 2017-08-29 criteria provided, single submitter clinical testing

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