ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.149_156del (p.Arg50fs)

dbSNP: rs1558190846
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680008 SCV000807446 uncertain significance Seizure; Intellectual disability 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in an 11-year-old male with global delays, autism, epilepsy, strabismus, cataract, tetralogy of Fallot, macrocephaly, hypospadias. One de novo mutation in the gene was reported to cause multiple congenital abnormalities with seizures in one patient (PMID 23934111). In addition, gross deletion mutations of the gene have been found in multiple unrelated patients with syndromic seizure disorders (PMID 20382278, 21800092, 22678713 and 22975012).

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