ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.915_916del (p.Arg306fs)

dbSNP: rs1569128307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697557 SCV000826176 pathogenic Familial aplasia of the vermis; Orofaciodigital syndrome I 2018-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in OFD1 are known to be pathogenic (PMID: 16783569, 18546297, 27081566). This variant has been observed in an individual affected with oral-facial-digital type 1 syndrome (PMID: 24884629). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg306Serfs*2) in the OFD1 gene. It is expected to result in an absent or disrupted protein product.

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