ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) (rs797044945)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190791 SCV000244232 pathogenic Inborn genetic diseases 2013-10-25 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family
Invitae RCV000688416 SCV000816026 pathogenic Joubert syndrome; Orofaciodigital syndrome I 2018-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile930Lysfs*8) in the OFD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as hemizygous in the literature in individuals affected with Joubert syndrome, and determined to be de novo in at lease one of them (PMID: 23036093, 25356970). ClinVar contains an entry for this variant (Variation ID: 208769). Loss-of-function variants in OFD1 are known to be pathogenic (PMID: 16783569, 18546297, 27081566). For these reasons, this variant has been classified as Pathogenic.

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