ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.400_403del (p.Glu134fs) (rs312262830)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000590449 SCV000693898 pathogenic Joubert syndrome 10 2017-06-25 criteria provided, single submitter research De novo variant in proband, maternity and paternity confirmed (PS2). Previously reported pathogenic in 2 manuscripts but unclear if same patient described (PMID: 18546297; PMID: 24884629). Protein truncating variants are a known disease mechainism (PVS1) and absent from gnomAD (PM2).
Baylor Genetics RCV000850574 SCV000992795 pathogenic Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome 10 2017-12-31 criteria provided, single submitter clinical testing
Invitae RCV001045035 SCV001208864 pathogenic Joubert syndrome; Orofaciodigital syndrome I 2020-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu134Ilefs*10) 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 observed in individual(s) with oral-facial-digital syndrome (PMID: 18546297). ClinVar contains an entry for this variant (Variation ID: 41117). 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 RCV000034016 SCV000057946 pathologic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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