ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.710del (p.Lys237fs) (rs312262845)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701027 SCV000829809 pathogenic Joubert syndrome; Orofaciodigital syndrome I 2018-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys237Serfs*6) in the OFD1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in individuals affected with oral-facial-digital syndrome type I, and was reported to be de novo in at least one of these individuals (PMID: 18546297). ClinVar contains an entry for this variant (Variation ID: 41142). 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.
GeneReviews RCV000034041 SCV000057971 pathologic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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