ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1977_1978CT[1] (p.Ser660fs) (rs312262887)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008095 SCV001167840 pathogenic not provided 2019-03-07 criteria provided, single submitter clinical testing The c.1979_1980delCT variant in the OFD1 gene has been reported previously as a likely de novo variant in two unrelated individuals with a clinical diagnosis of Oral-Facial-Digital syndrome type 1 (Prattichizzo et al., 2008). The c.1979_1980delCT variant causes a frameshift starting with codon Serine 660, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 40 of the new reading frame, denoted p.Ser660CysfsX40. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1979_1980delCT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1979_1980delCT as a pathogenic variant,
GeneReviews RCV000033988 SCV000057918 pathologic Orofaciodigital syndrome I 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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