ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.237del (p.Trp79fs)

dbSNP: rs1639662557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir RCV001257915 SCV001433866 pathogenic Fucosidosis no assertion criteria provided research At eight months of age, the girl was referred to the pediatric department of La Rabta Hospital of Tunis (North of Tunisia) with psychomotor retardation, loss of smile response, and sitting station. Ten months later, she was evaluated for facial dysmorphism, convergent strabismus, gingival hypertrophy of angiokeratomas, and angiokeratomas under the nails. She died due to cardiorespiratory complications when she was six years old.

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