ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.875_876AT[1] (p.Met293fs) (rs312262858)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000034052 SCV000194323 pathogenic Orofaciodigital syndrome I 2013-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000522417 SCV000617387 pathogenic not provided 2017-08-14 criteria provided, single submitter clinical testing The c.877_878delAT variant in the OFD1 gene has been reported previously in two unrelated individuals with oral-facial-digital syndrome, type 1 (Prattichizzo et al., 2008). The c.877_878delAT variant causes a frameshift starting with codon Methionine 293, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Met293GlyfsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.877_878delAT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.877_878delAT as a pathogenic variant.
GeneReviews RCV000034052 SCV000057982 pathologic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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