ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.195A>C (p.Glu65Asp)

gnomAD frequency: 0.00002  dbSNP: rs1060500184
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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 RCV000456688 SCV000541758 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2016-06-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 65 of the OFD1 protein (p.Glu65Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a OFD1-related disease. 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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