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
GeneReviews	RCV000034041	SCV000057971	pathologic	Oral-facial-digital syndrome	2013-02-28	no assertion criteria provided	curation	Converted during submission to Pathogenic.
Invitae	RCV000701027	SCV000829809	pathogenic	Joubert syndrome; Oral-facial-digital syndrome	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.

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