ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu)

gnomAD frequency: 0.00002  dbSNP: rs754615597
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572305 SCV001796919 likely benign not provided 2020-07-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821904 SCV002070759 likely benign not specified 2019-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001866038 SCV002200149 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 693 of the OFD1 protein (p.Gly693Glu). This variant is present in population databases (rs754615597, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with OFD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1205597). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt OFD1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV001572305 SCV002498099 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing

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