ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)

gnomAD frequency: 0.00002  dbSNP: rs1260959326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262142 SCV001439907 likely benign Joubert syndrome 10 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Invitae RCV003770364 SCV004582401 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2023-03-27 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt OFD1 protein function. ClinVar contains an entry for this variant (Variation ID: 982582). This variant has not been reported in the literature in individuals affected with OFD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 726 of the OFD1 protein (p.Arg726Cys).

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