ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1268_1272del (p.Gln423fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003397428 SCV004105124 pathogenic OFD1-related condition 2023-07-10 criteria provided, single submitter clinical testing The OFD1 c.1268_1272del5 variant is predicted to result in a frameshift and premature protein termination (p.Gln423Profs*5). This variant has been reported to have arisen de novo in an individual with oral-facial-digital syndrome I (Prattichizzo et al 2008. PubMed ID: 18546297). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in OFD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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