ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.17A>G (p.Asn6Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003021741 SCV003320375 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 6 of the OFD1 protein (p.Asn6Ser). This variant is present in population databases (rs750370428, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with OFD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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