ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)

gnomAD frequency: 0.00002  dbSNP: rs746300545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175046 SCV000226473 uncertain significance not provided 2015-05-08 criteria provided, single submitter clinical testing
Invitae RCV000701169 SCV000829955 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2022-12-18 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: 194632). This variant has not been reported in the literature in individuals affected with OFD1-related conditions. This variant is present in population databases (rs746300545, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 723 of the OFD1 protein (p.Ser723Leu).

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